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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VDAC1

Variant:p.R120Q

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VDAC1

NM_003374.3:p.R120Q

hg38:chr5:133980921 C>T

Associated Papers

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.

Cantarero L et al.

Biology Open, 2023

36912213 (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."