Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.I231T
Back to variants list

HGD

NM_000187.4:p.I231T

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

mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance.

Pires DE et al.

Scientific Reports, 2016

27384129 (PubMed )
Supplement: srep29575-s1.pdf
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."