Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.S74fs
Back to variants list

POU3F4

NM_000307.5:p.S74fs

Associated Papers

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.

Bernardinelli E et al.

Frontiers in Molecular Neuroscience, 2022

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."