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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.P4905L

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RYR1

NM_000540.3:p.P4905L

hg38:chr19:38585010 C>T

Associated Papers

Challenges in genetic counseling for RYR1-related myopathies.

Shimomura R et al.

Brain & Development, 2025

40311547 (PubMed )

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