Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S483Splc
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SMAD4

NM_005359.6:p.S483Splc

Associated Papers

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.

Luchini C et al.

Virchows Archiv : an International Journal of Pathology, 2022

Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.

MacFarland SP et al.

Cancer Prevention Research (philadelphia, Pa.), 2021

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM1_ESM.xlsx › Tabelle1
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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."