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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP210

Variant:p.R1225W

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NUP210

NM_024923.4:p.R1225W

hg38:chr3:13336798 G>A

Associated Papers

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

Nauth T et al.

The Journal of Clinical Investigation, 2025

41056017 (PubMed )

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