Varaico: Literature-Extracted Genetic Variants

Gene:PCNT
Variant:p.L1880L
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PCNT

NM_006031.6:p.L1880L

Associated Papers

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Novillo A et al.

Human Mutation, 2026

41756679 (PubMed )
Supplement: HUMU-2026-3575977-s001.xlsx › MUTATION_CHARACTERISTICS
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