Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

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http://www.wikidata.org/entity/Q30454347
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing lossA novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian familyProgress and prospects in human genetic research into age-related hearing impairment.Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing lossComprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss PatientsA Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

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http://www.wikidata.org/entity/Q30454347
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Comprehensive genetic screenin ...... ations and a founder mutation.
@ast
Comprehensive genetic screenin ...... ations and a founder mutation.
@en
type
label
Comprehensive genetic screenin ...... ations and a founder mutation.
@ast
Comprehensive genetic screenin ...... ations and a founder mutation.
@en
prefLabel
Comprehensive genetic screenin ...... ations and a founder mutation.
@ast
Comprehensive genetic screenin ...... ations and a founder mutation.
@en
P1433
P1476
P2093
P2860
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P31
P356
P407
P433
P478
P50
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P5875
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P932
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Comprehensive genetic screenin ...... lations and a founder mutation
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0063231
P407
P433
P478
P50
P577
P5875
P698
P932