Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q239*
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SMAD4

NM_005359.6:p.Q239*

Associated Papers

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

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

Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.

Hatch SL et al.

Annals of Clinical Biochemistry, 2007

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

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

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

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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."