Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.Y92*
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MAT1A

NM_000429.3:p.Y92*

Associated Papers

Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.

Sánchez-Pérez GF et al.

International Journal of Molecular Sciences, 2021

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

Nashabat M et al.

Therapeutics and Clinical Risk Management, 2018

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH et al.

Orphanet Journal of Rare Diseases, 2015

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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."