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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNPY3

Variant:p.D2H

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CNPY3

NM_006586.5:p.D2H

hg38:chr6:42929574 G>C

Associated Papers

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.

Engal E et al.

Science Advances, 2024

38809976 (PubMed )

Supplement: sciadv.adn7732_tables_s1_to_s4.zip › Table_S2.xlsx › MEF

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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."