Varaico: Literature-Extracted Genetic Variants

Gene:MAT2A
Variant:p.S180insFs
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MAT2A

NM_005911.6:p.S180insFs

Associated Papers

Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.

Shafqat N et al.

The Biochemical Journal, 2013

23425511 (PubMed )
Supplement: bj4520027add.pdf

Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.

Furujo M et al.

Molecular Genetics and Metabolism, 2012

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

Chamberlin ME et al.

American Journal of Human Genetics, 2000

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

Chamberlin ME et al.

The Journal of Clinical Investigation, 1996

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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."