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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMN1

Variant:p.R120G

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SMN1

NM_000344.4:p.R120G

hg38:chr5:70942442 A>G

Associated Papers

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain.

Walker MP et al.

Human Molecular Genetics, 2008

18689355 (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."