Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.G121E
Back to variants list

HGD

NM_000187.4:p.G121E

Associated Papers

Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.

Abraham SSC et al.

The Indian Journal of Medical Research, 2024

Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

Danda S et al.

Clinical Rheumatology, 2020

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."