Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.A88S
Back to variants list

P3H3

NM_014262.5:p.A88S

Associated Papers

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Parzefall T et al.

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, 2017

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

Frei K et al.

The Laryngoscope, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."