Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.A430V
Back to variants list

HSD17B4

NM_000414.4:p.A430V

Associated Papers

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.

Idyahia A et al.

Molecular Biology Reports, 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."