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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNMT3B

Variant:p.G587Splc

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DNMT3B

NM_006892.4:p.G587Splc

hg38:chr20:32800148 C>G

Associated Papers

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.

Huang M et al.

Journal of Translational Medicine, 2024

38741136 (PubMed )

Supplement: 12967_2024_5259_MOESM2_ESM.xlsx › Supplemental_Table_5

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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."