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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDK5RAP2

Variant:p.Q1474delFs

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CDK5RAP2

NM_018249.6:p.Q1474delFs

hg38:chr9:120409309 CT>C

Associated Papers

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Erdogan M et al.

American Journal of Medical Genetics. Part A, 2025

40243280 (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."