Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

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http://www.wikidata.org/entity/Q28139762
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleGenetic factors that might lead to different responses in individuals exposed to perchlorate.Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsA novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.Molecular basis of autosomal recessive diseases among the Palestinian Arabs.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyPendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.What's hot about otoferlin.Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation.
P2860

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

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http://www.wikidata.org/entity/Q28139762
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2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2000年の論文
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2000年論文
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2000年論文
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Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
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Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
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Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
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type
label
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
@ast
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
@en
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
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prefLabel
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
@ast
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
@en
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
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P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
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P1433
P1476
Deafness heterogeneity in a Dr ...... ndication for a new DFNB locus
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P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921