Varaico: Literature-Extracted Genetic Variants

Gene:RIOK1
Variant:p.R229Splc
Back to variants list

RIOK1

NM_031480.3:p.R229Splc

Associated Papers

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

Niu Z et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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."