(Q35208307)

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Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis

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Europe PubMed Central

PubMed publication ID

7 August 2017

Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis (English)

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7 August 2017

cystic fibrosis

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24

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Ivet Bahar

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Jinsei Jung

2

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Min Goo Lee

25

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Michael Barmada

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M Michael Barmada

23

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David C Whitcomb

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David C Whitcomb

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7 August 2017

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Adam Slivka

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Dhiraj Yadav

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7 August 2017

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Jessica LaRusch

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7 August 2017

Ignacio J General

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7 August 2017

Michele D Lewis

4

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7 August 2017

Hyun Woo Park

5

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7 August 2017

Randall E Brand

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7 August 2017

Andres Gelrud

7

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7 August 2017

Michelle A Anderson

8

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Peter A Banks

9

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Darwin Conwell

10

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Christopher Lawrence

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7 August 2017

Joseph Romagnuolo

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7 August 2017

John Baillie

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7 August 2017

Samer Alkaade

14

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Gregory Cote

15

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Timothy B Gardner

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Stephen T Amann

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Bimaljit Sandhu

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7 August 2017

Amy Aloe

20

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7 August 2017

Michelle L Kienholz

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7 August 2017

North American Pancreatitis Study Group

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7 August 2017

publication date

17 July 2014

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7 August 2017

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7 August 2017

10

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7 August 2017

7

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7 August 2017

e1004376

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7 August 2017

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Creative Commons Attribution 4.0 International

17 July 2014

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April 2022 Public Data File from Crossref

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0 references

Dynamics intrinsic to cystic fibrosis transmembrane conductance regulator function and stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The CFTR ion channel: gating, regulation, and anion permeation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Locating a plausible binding site for an open-channel blocker, GlyH-101, in the pore of the cystic fibrosis transmembrane conductance regulator.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

New model of cystic fibrosis transmembrane conductance regulator proposes active channel-like conformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Cystic fibrosis transmembrane conductance regulator: a molecular model defines the architecture of the anion conduction path and locates a "bottleneck" in the pore

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Molecular mechanism of pancreatic and salivary gland fluid and HCO3 secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR): THREE-DIMENSIONAL STRUCTURE AND LOCALIZATION OF A CHANNEL GATE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Nongenetic influences on cystic fibrosis outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Recommendations for the classification of diseases as CFTR-related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

On the mechanism of CFTR inhibition by a thiazolidinone derivative

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

A new role for bicarbonate in mucus formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

On the functional significance of soft modes predicted by coarse-grained models for membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Asymmetric switching in a homodimeric ABC transporter: a simulation study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Dynamic regulation of CFTR bicarbonate permeability by [Cl-]i and its role in pancreatic bicarbonate secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Alcohol consumption, cigarette smoking, and the risk of recurrent acute and chronic pancreatitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The regulation of salt transport and blood pressure by the WNK-SPAK/OSR1 signalling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Multicenter approach to recurrent acute and chronic pancreatitis in the United States: the North American Pancreatitis Study 2 (NAPS2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

A novel computational and structural analysis of nsSNPs in CFTR gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Comparison of multiple Amber force fields and development of improved protein backbone parameters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Structure of a bacterial multidrug ABC transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Atypical CF and CF related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The Amber biomolecular simulation programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

A mathematical model of the pancreatic duct cell generating high bicarbonate concentrations in pancreatic juice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The phenotypic consequences of CFTR mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Cystic fibrosis transmembrane conductance regulator. Physical basis for lyotropic anion selectivity patterns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Anion permeation in an apical membrane chloride channel of a secretory epithelial cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

28 July 2018

Dynamic modulation of ANO1/TMEM16A HCO3(-) permeability by Ca2+/calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

The power stroke driven by ATP binding in CFTR as studied by molecular dynamics simulations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

SPINK1 gene mutations and pancreatitis in Japan.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

WNK1 and OSR1 regulate the Na+, K+, 2Cl- cotransporter in HeLa cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Thiazolidinone CFTR inhibitor identified by high-throughput screening blocks cholera toxin-induced intestinal fluid secretion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Is isolated idiopathic pancreatitis associated with CFTR mutations?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

Cystic fibrosis: genotypic and phenotypic variations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102440

26 September 2018

van der Waals Volumes and Radii

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004376

21 January 2018

Independent Contribution of Common CFTR Variants to Chronic Pancreatitis

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004376

21 January 2018

Molecular Dynamics Simulations of the Bacterial ABC Transporter SAV1866 in the Closed Form

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004376

21 January 2018

Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreat

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis mutations with widely variable phenotype: the D1152H example

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyvariant mutant CFTR genes in patients with chronic pancreatitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides

1 reference

https://pubmed.ncbi.nlm.nih.gov/25033378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1004376

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

ResearchGate publication ID

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