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European Archives of Oto-Rhino-Laryngology

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Open Access 01-05-2016 | Letter to the Editor

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

Authors: Urszula Lechowicz, Agnieszka Pollak, Dominka Oziębło, Monika Ołdak

Published in: European Archives of Oto-Rhino-Laryngology | Issue 5/2016

Excerpt

Dear Editor, …

Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K (2015) TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. Eur Arch Otorhinolaryngol. doi:10.1007/s00405-015-3671-0 [Epub ahead of print]

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Lechowicz U, Pollak A, Podgorska A, Stawinski P, Franke A, Petersen B et al (2015) Profile of TMPRSS3 mutation among Polish patients with nonsyndromic hearing impairment. In: European Human Genetics Conference. Glasgow, Scotland, United Kingdom. Eur J Hum 23(1)

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Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M (2010) Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet 18(4):407–413CrossRefPubMedPubMedCentral

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Title: Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss
Authors: Urszula Lechowicz
Agnieszka Pollak
Dominka Oziębło
Monika Ołdak
Publication date: 01-05-2016
Publisher: Springer Berlin Heidelberg
Published in: European Archives of Oto-Rhino-Laryngology / Issue 5/2016
Print ISSN: 0937-4477
Electronic ISSN: 1434-4726
DOI: https://doi.org/10.1007/s00405-015-3782-7

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

Excerpt

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