Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.G375A
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SHMT2

NM_005412.6:p.G375A

Associated Papers

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

García-Cazorla À et al.

Acta Neuropathologica, 2020

33015733 (PubMed )
Supplement: 401_2020_2223_MOESM2_ESM.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."