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

Authors :: Lechowicz U
Pollak A
Oziębło D
Ołdak M
Source :: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2016 May; Vol. 273 (5), pp. 1327-8. Date of Electronic Publication: 2015 Sep 25.
Publication Year :: 2016

Subjects :: Connexin 26
Connexins genetics
Hearing Loss, Sensorineural
Humans
Mutation
Deafness
Hearing Loss

Language :: English
ISSN :: 1434-4726
Volume :: 273
Issue :: 5
Database :: MEDLINE
Journal :: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Publication Type :: Editorial & Opinion
Accession number :: 26408194
Full Text :: https://doi.org/10.1007/s00405-015-3782-7

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