A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

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http://www.wikidata.org/entity/Q55044079
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese FamilyExome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.Function and expression pattern of nonsyndromic deafness genesInterstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing lossEvaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing lossA novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control studyWhat have we learned from murine models of otitis media?Epigenetic Silencing of Eyes Absent 4 Gene by Acute Myeloid Leukemia 1-Eight-twenty-one Oncoprotein Contributes to Leukemogenesis in t(8;21) Acute Myeloid Leukemia.Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5Sensorineural hearing loss and mild cardiac phenotype caused by an mutation
P2860

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Item
http://www.wikidata.org/entity/Q55044079
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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@zh-my
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2007年學術文章
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name
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
@en
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
@nl
type
label
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
@en
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
@nl
prefLabel
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
@en
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
A novel splice site mutation in EYA4 causes DFNA10 hearing loss
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698