Varaico: Literature-Extracted Genetic Variants

Gene:PJVK
Variant:p.S170_L171delFs
Back to variants list

PJVK

NM_001042702.5:p.S170_L171delFs

Associated Papers

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Salime S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Collin RW et al.

Human Mutation, 2007

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."