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

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

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."