Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.M470T
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BMPR1A

NM_004329.3:p.M470T

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Polyposis found on index colonoscopy in a 56-year-old female - BMPR1A variant in juvenile polyposis syndrome: A case report.

Wu MY et al.

World Journal of Gastrointestinal Endoscopy, 2023

Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.

Papadopulos ME et al.

Hereditary Cancer in Clinical Practice, 2023

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

Liu Q et al.

Bmc Medical Genetics, 2020

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Rohlin A et al.

Familial Cancer, 2017

Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.

Kim IJ et al.

Clinical Genetics, 2003

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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."