Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.K289N
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MAT1A

NM_000429.3:p.K289N

Associated Papers

Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.

Zhao D et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

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

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

Spectrum of hypermethioninemia in neonatal screening.

Chien YH et al.

Early Human Development, 2005

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."