Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.V361F
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MAT1A

NM_000429.3:p.V361F

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

Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.

Nashabat M et al.

Therapeutics and Clinical Risk Management, 2018

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Alfadhel M et al.

Orphanet Journal of Rare Diseases, 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."