Varaico: Literature-Extracted Genetic Variants

Gene:CENPF
Variant:p.E912*
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CENPF

NM_016343.4:p.E912*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

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

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

A further family of Stromme syndrome carrying CENPF mutation.

Ozkinay F et al.

American Journal of Medical Genetics. Part A, 2017

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Filges I et al.

Human Mutation, 2016

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Filges I et al.

Human Mutation, 2016

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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."