Varaico: Literature-Extracted Genetic Variants

Gene:MAT2A
Variant:p.A233V
Back to variants list

MAT2A

NM_005911.6:p.A233V

Associated Papers

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Guo DC et al.

American Journal of Human Genetics, 2015

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."