Varaico: Literature-Extracted Genetic Variants

Gene:MAT1A
Variant:p.G91S
Back to variants list

MAT1A

NM_000429.3:p.G91S

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

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

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

Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.

Chadwick S et al.

Jimd Reports, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."