Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1
Variant:p.N986_I987delFs
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NCKAP1

NM_013436.5:p.N986_I987delFs

Associated Papers

A De Novo Loss-of-Function NCKAP1 Variant in a Boy with Neurodevelopmental Delay and Congenital Heart Defect.

Zhang W et al.

Children (basel, Switzerland), 2025

41462819 (PubMed )
Supplement: children-12-01680-s001.zip › children-3999357-supplementary.pdf
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