Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.S174S
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CKAP4

NM_006825.4:p.S174S

Associated Papers

Molecular and Cellular Function of p63 in Skin Development and Genetic Diseases.

Di Girolamo D et al.

The Journal of Investigative Dermatology, 2025

Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.

Osterburg C et al.

Cell Death & Disease, 2023

37072394 (PubMed )
Supplement: 41419_2023_5796_MOESM10_ESM.xlsx › p63_mutations

p63-associated disorders.

Rinne T et al.

Cell Cycle (georgetown, Tex.), 2007

Pattern of p63 mutations and their phenotypes--update.

Rinne T et al.

American Journal of Medical Genetics. Part A, 2006

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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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."