A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
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Genetics of Nonsyndromic Congenital Hearing LossTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionRecessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss PedigreesGenetics of auditory mechano-electrical transduction.Whole-exome sequencing and its impact in hereditary hearing lossDOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Invited review: Small GTPases and their GAPs.Unresolved questions regarding human hereditary deafness.A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.TLDc proteins: new players in the oxidative stress response and neurological disease.TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
P2860
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P2860
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
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2014 nî lūn-bûn
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name
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@en
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@nl
type
label
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@en
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@nl
prefLabel
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@en
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@nl
P2093
P2860
P356
P1433
P1476
A dominant mutation in the ste ...... nsyndromic hearing impairment.
@en
P2093
Lingxiang Hu
Luping Zhang
Xiuhong Pang
Yongchuan Chai
P2860
P304
P356
10.1002/HUMU.22558
P577
2014-05-06T00:00:00Z