Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.N176S
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CILK1

NM_014920.5:p.N176S

Associated Papers

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta.

Mai Q et al.

Frontiers in Endocrinology, 2023

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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."