Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.K505N
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CKAP4

NM_006825.4:p.K505N

Associated Papers

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.

Funk CR et al.

The Journal of International Medical Research, 2020

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