Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.R330G
Back to variants list

HGD

NM_000187.4:p.R330G

Associated Papers

First report of HGD mutations in a Chinese with alkaptonuria.

Yang YJ et al.

Gene, 2013

Structural and functional analysis of mutations in alkaptonuria.

Rodríguez JM et al.

Human Molecular Genetics, 2000

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."