Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.R311K
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CKAP4

NM_006825.4:p.R311K

Associated Papers

Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.

Barbaro V et al.

Cells, 2023

Analysis and pharmacological modulation of senescence in human epithelial stem cells.

Barbaro V et al.

Journal of Cellular and Molecular Medicine, 2022

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

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H et al.

American Journal of Human Genetics, 2001

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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."