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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CILK1

Variant:p.L54F

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CILK1

NM_014920.5:p.L54F

hg38:chr6:53032649 T>A

Associated Papers

An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling.

Limerick A et al.

Biorxiv : the Preprint Server for Biology, 2024

38798407 (PubMed )

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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."