Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1063_E1064delFs
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APC

NM_000038.6:p.S1063_E1064delFs

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

Teduglutide Therapy in 2 Patients With Short-Bowel Syndrome and Familial Adenomatous Polyposis.

George AT et al.

Jpen. Journal of Parenteral and Enteral Nutrition, 2021

Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.

Surun A et al.

Neuro-oncology, 2020

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

Fostira F et al.

Bmc Cancer, 2010

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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."