Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.S48C
Back to variants list

GALE

NM_001008216.2:p.S48C

Associated Papers

Epimerase-deficiency galactosemia is not a binary condition.

Openo KK et al.

American Journal of Human Genetics, 2006

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."