(Q42975330)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

2

1 reference

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20 March 2020

author name string

Yongyi Yuan

1

1 reference

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20 March 2020

Qing Chang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Jin Zeng

4

1 reference

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20 March 2020

Feng Xin

5

1 reference

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20 March 2020

Jianjun Wang

6

1 reference

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20 March 2020

Qingyan Zhu

7

1 reference

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20 March 2020

Jing Wu

8

1 reference

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20 March 2020

Jingqiao Lu

9

1 reference

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20 March 2020

Weiwei Guo

10

1 reference

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20 March 2020

Xukun Yan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Hui Jiang

12

1 reference

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20 March 2020

Binfei Zhou

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Qi Li

14

1 reference

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20 March 2020

Xue Gao

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Huijun Yuan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Shiming Yang

17

1 reference

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20 March 2020

Dongyi Han

18

1 reference

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20 March 2020

Zixu Mao

19

1 reference

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20 March 2020

Ping Chen

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Xi Lin

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Pu Dai

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

10 June 2014

1 reference

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20 March 2020

1 reference

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20 March 2020

volume

24

1 reference

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20 March 2020

issue

11

1 reference

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20 March 2020

page(s)

1370-1373

1 reference

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Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

20 March 2020

copyright license

start time

10 June 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/cr.2014.77

0 references

cites work

The genetic basis of DOORS syndrome: an exome-sequencing study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

Early postnatal virus inoculation into the scala media achieved extensive expression of exogenous green fluorescent protein in the inner ear and preserved auditory brainstem response thresholds

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

A de novo paradigm for mental retardation.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

DOOR syndrome: clinical report, literature review and discussion of natural history.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220163

Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24913193

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/CR.2014.77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24913193%20AND%20SRC:MED&resulttype=core&format=json