Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.G63V
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MAT1A

NM_000429.3:p.G63V

Associated Papers

Adolescent-onset hyperhomocysteinaemia: cases report and literature review.

Li Y et al.

Neurocase, 2025

Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.

Mu J et al.

Medicine, 2024

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

Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.

Sánchez-Pérez GF et al.

International Journal of Molecular Sciences, 2021

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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."