Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78
Variant:p.R103Q
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CCDC78

NM_001378030.1:p.R103Q

Associated Papers

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.

Macias A et al.

Frontiers in Neuroscience, 2021

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_MOESM1_ESM.xlsx › Arkusz1
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