Varaico: Literature-Extracted Genetic Variants

Gene:CKAP2L
Variant:p.I390fs
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CKAP2L

NM_152515.5:p.I390fs

Associated Papers

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.

Bas H et al.

American Journal of Medical Genetics. Part A, 2024

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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."