Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.R356R
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MAT1A

NM_000429.3:p.R356R

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

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

Chamberlin ME et al.

American Journal of Human Genetics, 2000

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