Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.N570delFs
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CKAP4

NM_006825.4:p.N570delFs

Associated Papers

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE et al.

The British Journal of Dermatology, 2010

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.

Shotelersuk V et al.

Clinical and Experimental Dermatology, 2005

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

Bertola DR et al.

Clinical Genetics, 2004

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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