Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.Q239*
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BMPR1A

NM_004329.3:p.Q239*

Associated Papers

Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Gariballa N et al.

Frontiers in Molecular Biosciences, 2020

Sporadic and Hereditary Breast Cancer Genetics.

Zehr KR

Radiologic Technology, 2018

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

Calva-Cerqueira D et al.

Clinical Genetics, 2009

Genetic conditions associated with intestinal juvenile polyps.

Merg A et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2004

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

Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

Cohen MM

American Journal of Medical Genetics. Part A, 2003

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

Waite KA et al.

Nature Reviews. Genetics, 2003

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

Sayed MG et al.

Annals of Surgical Oncology, 2002

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP et al.

American Journal of Human Genetics, 2001

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

Howe JR et al.

Nature Genetics, 2001

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects.

Soravia C et al.

Schweizerische Medizinische Wochenschrift, 1997

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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."