Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.D1942fs
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APC

NM_000038.6:p.D1942fs

Associated Papers

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Alba-Pavón P et al.

Translational Pediatrics, 2023

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

McGuigan A et al.

European Journal of Human Genetics : Ejhg, 2022

34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

34638506 (PubMed )
Supplement: cancers-13-05022-s001.zip › cancers-1416120-supplementary.pdf

Lower Rate of CTNNB1 Mutations and Higher Rate of APC Mutations in Desmoid Fibromatosis of the Breast: A Series of 134 Tumors.

Norkowski E et al.

The American Journal of Surgical Pathology, 2020

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Stradella A et al.

Journal of Medical Genetics, 2019

From Gardner fibroma diagnosis to constitutional APC mutation detection: a one-way street.

Santoro C et al.

Clinical Case Reports, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 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."