Varaico: Literature-Extracted Genetic Variants

Gene:CCNF
Variant:p.L531R
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CCNF

NM_001761.3:p.L531R

Associated Papers

Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

Xiao Y et al.

Journal of Medical Genetics, 2025

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.

Zhao B et al.

Molecular Neurobiology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.

Tsai PC et al.

Neurobiology of Aging, 2018

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort.

Tian D et al.

Frontiers in Aging Neuroscience, 2018

30008669 (PubMed )
Supplement: Data_Sheet_1.PDF

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL et al.

Nature Communications, 2016

27080313 (PubMed )
Supplement: ncomms11253-s1.pdf

Exome sequencing in a breast cancer family without BRCA mutation.

Noh JM et al.

Radiation Oncology Journal, 2015

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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."