Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.D258G
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MAT1A

NM_000429.3:p.D258G

Associated Papers

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

Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.

Panmanee J et al.

Acta Crystallographica. Section D, Structural Biology, 2020

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

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

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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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."