Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.A328fs
Back to variants list

AMT

NM_000481.4:p.A328fs

Associated Papers

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

AlBanji MH et al.

Molecular Genetics and Metabolism Reports, 2020

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

Azize NA et al.

Journal of Human Genetics, 2014

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."