Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.Y271C
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MAT1A

NM_000429.3:p.Y271C

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

36704196 (PubMed )
Supplement: DataSheet1.PDF

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

Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.

Kido J et al.

Brain & Development, 2019

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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."