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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHMT2

Variant:p.Q67fs

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SHMT2

NM_005412.6:p.Q67fs

hg38:chr12:57230968 CAG>N

Associated Papers

Mitochondrial translation requires folate-dependent tRNA methylation.

Morscher RJ et al.

Nature, 2018

29364879 (PubMed )

Supplement: NIHMS928014-supplement-Supp_figs.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."