Varaico: Literature-Extracted Genetic Variants

Gene:MAT2A
Variant:p.E57Splc
Back to variants list

MAT2A

NM_005911.6:p.E57Splc

Associated Papers

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

Nagao M et al.

Molecular Genetics and Metabolism, 2013

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."