Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.R180W
Back to variants list

GOT2

NM_002080.4:p.R180W

Associated Papers

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

German HM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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."