Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R443H
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BMPR1A

NM_004329.3:p.R443H

Associated Papers

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

Garrett A et al.

Journal of Medical Genetics, 2020

32170000 (PubMed )
Supplement: jmedgenet-2019-106759supp002.pdf

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

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 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."