Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.T78I
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BMPR1A

NM_004329.3:p.T78I

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

BMPR1A mutations in juvenile polyposis affect cellular localization.

Howe JR et al.

The Journal of Surgical Research, 2013

Evidence for an hMSH3 defect in familial hamartomatous polyps.

Huang SC et al.

Cancer, 2011

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

Calva-Cerqueira D et al.

Clinical Genetics, 2009

Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A.

Kurland JE et al.

Journal of Pediatric Gastroenterology and Nutrition, 2007

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

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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."