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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPLANE1

Variant:p.V122G

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CPLANE1

NM_001384732.1:p.V122G

hg38:chr5:37244580 A>C

Associated Papers

A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.

Shankarappa B et al.

Molecular Syndromology, 2025

39911166 (PubMed )

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