Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.R311G
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CKAP4

NM_006825.4:p.R311G

Associated Papers

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

Osterburg C et al.

Cell Death & Disease, 2023

Isoform-Specific Roles of Mutant p63 in Human Diseases.

Osterburg C et al.

Cancers, 2021

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Barbaro V et al.

Stem Cells Translational Medicine, 2016

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Di Iorio E et al.

Ophthalmology, 2012

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

Clements SE et al.

The British Journal of Dermatology, 2010

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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."