Varaico: Literature-Extracted Genetic Variants

Gene:CKAP2L
Variant:p.N184_K185delFs
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CKAP2L

NM_152515.5:p.N184_K185delFs

Associated Papers

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Karakaya T et al.

American Journal of Medical Genetics. Part A, 2021

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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."