Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.E187K
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CKAP4

NM_006825.4:p.E187K

Associated Papers

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Kantaputra PN et al.

Journal of Dental Research, 2011

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

Andreou AM et al.

American Journal of Human Genetics, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."