Varaico: Literature-Extracted Genetic Variants

Gene:MAT2A
Variant:p.R299H
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MAT2A

NM_005911.6:p.R299H

Associated Papers

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH et al.

Orphanet Journal of Rare Diseases, 2015

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

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Fernández-Irigoyen J et al.

Molecular Genetics and Metabolism, 0

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