Varaico: Literature-Extracted Genetic Variants

Gene:CCDC51
Variant:p.R22W
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CCDC51

NM_001256964.2:p.R22W

Associated Papers

Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.

Ugarteburu O et al.

Mitochondrion, 2026

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis
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