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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CILK1

Variant:p.Y555delFs

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CILK1

NM_014920.5:p.Y555delFs

hg38:chr6:53006393 CAT>C

Associated Papers

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Sezer A et al.

European Journal of Human Genetics : Ejhg, 2025

40615527 (PubMed )

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