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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHTF18

Variant:p.H645P

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CHTF18

NM_022092.3:p.H645P

hg38:chr16:794185 A>C

Associated Papers

De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies.

Aref-Eshghi E et al.

Hgg Advances, 2025

40717333 (PubMed )

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