Varaico: Literature-Extracted Genetic Variants

Gene:PSKH1
Variant:p.V8D
Back to variants list

PSKH1

NM_006742.3:p.V8D

Associated Papers

Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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."