Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.E318Splc
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RNF43

NM_017763.6:p.E318Splc

Associated Papers

Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.

Brinch HH et al.

Familial Cancer, 2024

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.

Chan JM et al.

Familial Cancer, 2024

A pilot study to evaluate tissue- and plasma-based DNA driver mutations in a cohort of patients with pancreatic intraductal papillary mucinous neoplasms.

Park MA et al.

G3 (bethesda, Md.), 2023

Discovering the Mutational Profile of Early Colorectal Lesions: A Translational Impact.

Alquati C et al.

Cancers, 2021

Organoid cultures of early-onset colorectal cancers reveal distinct and rare genetic profiles.

Yan HHN et al.

Gut, 2020

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L et al.

Molecular Aspects of Medicine, 2019

Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing.

Lorans M et al.

Clinical Colorectal Cancer, 2018

RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.

Yan HHN et al.

Gut, 2017

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

Buchanan DD et al.

Gut, 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."