Varaico: Literature-Extracted Genetic Variants

Gene:CENPF
Variant:p.T1974insFs
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CENPF

NM_016343.4:p.T1974insFs

Associated Papers

Farnesylation-dependent kinetochore targeting of centromere protein F is essential for oocyte meiotic progression and female fertility.

Zhong O et al.

American Journal of Obstetrics and Gynecology, 2026

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Misceo D et al.

Genes, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.

Ho S et al.

American Journal of Medical Genetics. Part A, 2022

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Wu RC et al.

Cold Spring Harbor Molecular Case Studies, 2017

29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt

A further family of Stromme syndrome carrying CENPF mutation.

Ozkinay F et al.

American Journal of Medical Genetics. Part A, 2017

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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."