Varaico: Literature-Extracted Genetic Variants

Gene:CEP85
Variant:p.V379I
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CEP85

NM_001319944.2:p.V379I

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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