Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.L524_P525insFs
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CKAP4

NM_006825.4:p.L524_P525insFs

Associated Papers

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

Di Iorio E et al.

Ophthalmology, 2012

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."