Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.G1270fs
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CCDC88C

NM_001080414.4:p.G1270fs

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

41751559 (PubMed )
Supplement: genes-17-00176-s001.zip › Supplementary_File_S2.xlsx › Sheet1

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Marguet F et al.

Acta Neuropathologica Communications, 2021

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