Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Y117*
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SMAD4

NM_005359.6:p.Y117*

Associated Papers

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4.

DeBose-Scarlett E et al.

Journal of Medical Genetics, 2025

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2

Genomic testing for pancreatic cancer in clinical practice as real-world evidence.

Hayashi H et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

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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."