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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYOD1

Variant:p.R188fs

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MYOD1

NM_002478.5:p.R188fs

hg38:chr11:17720344 CGC>N

Associated Papers

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Mensah MA et al.

Nature, 2023

36755093 (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."