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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH2

Variant:p.R1824_V1825Splc

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MYH2

NM_017534.6:p.R1824_V1825Splc

hg38:chr17:10523413 C>T

Associated Papers

MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review.

Kang Y et al.

Journal of Human Genetics, 2025

40887487 (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."