Varaico: Literature-Extracted Genetic Variants

Gene:FANCC
Variant:p.Q332_L333Splc
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FANCC

NM_000136.3:p.Q332_L333Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.

Kang J et al.

International Journal of Molecular Sciences, 2022

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3

Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.

Raj N et al.

Jco Precision Oncology, 2018

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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."