Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC1
Variant:p.L238W
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MYBPC1

NM_002465.4:p.L238W

Associated Papers

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M et al.

Frontiers in Neurology, 2023

37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
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