Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.S50L
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SHMT2

NM_005412.6:p.S50L

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

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-s005.xlsx › Table_S2

Folate-mediated one-carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study.

Cheng TY et al.

Cancer, 2015

Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations.

Corrigan A et al.

The Pharmacogenomics Journal, 2014

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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."