Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.D258H
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MAT1A

NM_000429.3:p.D258H

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
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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."