Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.V324fs
Back to variants list

HGD

NM_000187.4:p.V324fs

Associated Papers

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Nemethova M et al.

European Journal of Human Genetics : Ejhg, 2016

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."