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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH2

Variant:p.R1852L

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MYH2

NM_017534.6:p.R1852L

hg38:chr17:10523330 C>A

Associated Papers

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Almatrafi AM et al.

Biomedicines, 2023

38001983 (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."