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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGM5

Variant:p.L117V

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TGM5

NM_201631.4:p.L117V

hg38:chr15:43260139 A>C

Associated Papers

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients.

Keskin I et al.

Plos One, 2016

26919046 (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."