Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.C82Y
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BMPR1A

NM_004329.3:p.C82Y

Associated Papers

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

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova V et al.

Theranostics, 2019

30809292 (PubMed )
Supplement: thnov09p0540s1.pdf

Somatic clones heterozygous for recessive disease alleles of BMPR1A exhibit unexpected phenotypes in Drosophila.

Akiyama T et al.

Elife, 2018

BMPR1A mutations in juvenile polyposis affect cellular localization.

Howe JR et al.

The Journal of Surgical Research, 2013

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

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

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