Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R141Splc
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APC

NM_000038.6:p.R141Splc

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › d_Exp-data

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

Thomas LE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28790112 (PubMed )
Supplement: 10780432ccr171269-sup-182767_2_supp_4154851_bsz4zb.xlsx › Data

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening.

Palmirotta R et al.

Human Mutation, 2012

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S et al.

Human Mutation, 2004

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Al-Tassan N et al.

Nature Genetics, 2002

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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."