Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1434-4726

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss ; volume:273 ; number:5 ; day:25 ; month:9 ; year:2015 ; pages:1327-1328 ; date:5.2016
European archives of oto-rhino-laryngology and head & neck ; 273, Heft 5 (25.9.2015), 1327-1328, 5.2016

Creator: Lechowicz, Urszula

Contributor: Pollak, Agnieszka
Oziębło, Dominka
Ołdak, Monika
SpringerLink (Online service)

DOI: 10.1007/s00405-015-3782-7

URN: urn:nbn:de:1111-2016040817844

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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Lechowicz, Urszula
Pollak, Agnieszka
Oziębło, Dominka
Ołdak, Monika
SpringerLink (Online service)

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Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss

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Other Objects (12)

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Variant analysis of 92 Chinese Han families with hearing loss

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Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family

Hearing loss

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35)

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

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Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

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Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35)

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Variant analysis of 92 Chinese Han families with hearing loss

Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss

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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

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