Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.G280R
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MAT1A

NM_000429.3:p.G280R

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

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.

Muriello MJ et al.

Molecular Genetics and Metabolism Reports, 2017

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Kim YM et al.

Molecular Medicine (cambridge, Mass.), 2016

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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."