Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.R356Q
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MAT1A

NM_000429.3:p.R356Q

Associated Papers

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

Ma X et al.

Bmc Pediatrics, 2024

Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.

Tong F et al.

Frontiers in Cell and Developmental Biology, 2022

36704196 (PubMed )
Supplement: DataSheet1.PDF

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

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

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

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."