Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P246T
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SMAD4

NM_005359.6:p.P246T

Associated Papers

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.

Tibiletti MG et al.

Biomedicines, 2022

35625944 (PubMed )
Supplement: biomedicines-10-01208-s001.zip › biomedicines-1723870-supplementary.pdf

Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease.

Bhave SA et al.

Cardiogenetics, 2021

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.

Duan XY et al.

European Journal of Human Genetics : Ejhg, 2019

[Mutation analysis of the CHD7 gene in patients with congenital heart disease].

Qi Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

[Study on mutation of presenilin-1 gene in familial Alzheimer's disease].

Liu XY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

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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."