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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYL1

Variant:p.C181delFs

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MYL1

NM_079420.3:p.C181delFs

hg38:chr2:210293735 TG>T

Associated Papers

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

Madrigal I et al.

Neuropathology and Applied Neurobiology, 2025

40488356 (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."