(Q34684253)

3 August 2017

title

Functional and structural analysis of C-terminal BRCA1 missense variants (English)

1 reference

3 August 2017

Lídia Feliubadaló

4

0 references

Roberto Mosca

Roberto Mosca

3

0 references

Patrick Aloy

Patrick Aloy

10

0 references

Alvaro Monteiro

Alvaro Monteiro

11

0 references

Joan Brunet

Joan Brunet

6

0 references

Ignacio Blanco

Ignacio Blanco

7

0 references

author name string

Francisco Quiles

1

1 reference

3 August 2017

Juana Fernández-Rodríguez

2

1 reference

3 August 2017

Eva Tornero

5

1 reference

3 August 2017

Gabriel Capellá

8

1 reference

3 August 2017

Miquel Àngel Pujana

9

1 reference

3 August 2017

Conxi Lázaro

12

1 reference

3 August 2017

language of work or name

English

0 references

publication date

17 April 2013

1 reference

3 August 2017

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3 August 2017

volume

8

1 reference

3 August 2017

issue

4

1 reference

3 August 2017

page(s)

e61302

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

17 April 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

7 July 2018

1 reference

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A guide for functional analysis of BRCA1 variants of uncertain significance

7 July 2018

1 reference

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STRUCTURE-FUNCTION OF THE TUMOR SUPPRESSOR BRCA1

7 July 2018

1 reference

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PON-P: integrated predictor for pathogenicity of missense variants

7 July 2018

1 reference

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ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

7 July 2018

1 reference

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Predicting the functional impact of protein mutations: application to cancer genomics

7 July 2018

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Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

7 July 2018

1 reference

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Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

7 July 2018

1 reference

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A method and server for predicting damaging missense mutations

7 July 2018

1 reference

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BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

7 July 2018

1 reference

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PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2.

7 July 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 July 2018

1 reference

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A three-state prediction of single point mutations on protein stability changes.

7 July 2018

1 reference

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SNAP: predict effect of non-synonymous polymorphisms on function

7 July 2018

1 reference

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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

7 July 2018

1 reference

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Functional assays for BRCA1 and BRCA2.

7 July 2018

1 reference

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Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

7 July 2018

1 reference

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Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3629201

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3629201

Classification of BRCA1 missense variants of unknown clinical significance

7 July 2018

1 reference

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7 July 2018

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Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

7 July 2018

1 reference

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7 July 2018

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1 reference

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A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3629201

BRCA1 mutations in primary breast and ovarian carcinomas

7 July 2018

1 reference

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Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061302

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061302

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061302

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061302

10.1371/JOURNAL.PONE.0061302

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference