Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H530delFs
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SMAD4

NM_005359.6:p.H530delFs

Associated Papers

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.

Carr JC et al.

The Journal of Surgical Research, 2012

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."