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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAT2A

Variant:p.G309A

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MAT2A

NM_005911.6:p.G309A

hg38:chr2:85542722 G>C

Associated Papers

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Guo DC et al.

American Journal of Human Genetics, 2015

25557781 (PubMed )

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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."