Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC2
Variant:p.V628M
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MYBPC2

NM_004533.4:p.V628M

Associated Papers

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Iruzubieta P et al.

Brain : a Journal of Neurology, 2024

38366623 (PubMed )
Supplement: awae046_supplementary_data.zip › brain-2023-01831-File011.xlsx › F2.II.1
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