Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.E222K
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CC2D2A

NM_001378615.1:p.E222K

Associated Papers

Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.

Nigro E et al.

Genes, 2023

37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf
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