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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNB1

Variant:p.G29fs

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CACNB1

NM_000723.5:p.G29fs

hg38:chr17:39194970 GCC>N

Associated Papers

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

Iturrate A et al.

European Journal of Human Genetics : Ejhg, 2025

41023410 (PubMed )

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