Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R478H
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BMPR1A

NM_004329.3:p.R478H

Associated Papers

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

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

Papadopulos ME et al.

Hereditary Cancer in Clinical Practice, 2023

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.

MacFarland SP et al.

Cancer Prevention Research (philadelphia, Pa.), 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

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

Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors.

Sanchez-Duffhues G et al.

Bone, 2020

A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A.

Demal TJ et al.

Scientific Reports, 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

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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."