Varaico: Literature-Extracted Genetic Variants

Gene:CENPE
Variant:p.F1535L
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CENPE

NM_001813.3:p.F1535L

Associated Papers

Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.

Wu Y et al.

Gene, 2026

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM et al.

Human Genetics, 2014

Computational screening and molecular dynamics simulation of disease associated nsSNPs in CENP-E.

Kumar A et al.

Mutation Research, 0

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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."