Varaico: Literature-Extracted Genetic Variants

Gene:SUPT20HL2
Variant:p.R168H
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SUPT20HL2

NM_001136233.3:p.R168H

Associated Papers

CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.

Yun Y et al.

Communications Biology, 2020

31959876 (PubMed )
Supplement: 42003_2020_755_MOESM4_ESM.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."