Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.Q180ins1
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CKAP4

NM_006825.4:p.Q180ins1

Associated Papers

A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon.

Tsutsui K et al.

The British Journal of Dermatology, 2003

Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.

Sawardekar SS et al.

Pediatric Dermatology, 0

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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."