Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.Q117*
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BMPR1A

NM_004329.3:p.Q117*

Associated Papers

Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.

Bukowska A et al.

Swiss Medical Weekly, 2025

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies.

Pope DH et al.

Journal of Clinical Medicine, 2020

Genetic polymorphisms in bone morphogenetic protein receptor type IA gene predisposes individuals to ossification of the posterior longitudinal ligament of the cervical spine via the smad signaling pathway.

Wang H et al.

Bmc Musculoskeletal Disorders, 2018

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

Calva-Cerqueira D et al.

Clinical Genetics, 2009

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR et al.

Journal of Medical Genetics, 2004

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

Sayed MG et al.

Annals of Surgical Oncology, 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."