Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.Q107*
Back to variants list

UGT1A1

NM_000463.3:p.Q107*

Associated Papers

Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Knapp A et al.

American Journal of Medical Genetics. Part A, 2022

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."