Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Y95*
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SMAD4

NM_005359.6:p.Y95*

Associated Papers

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

SMAD4 loss-of-function mutation predisposes to congenital heart disease.

Wang Y et al.

European Journal of Medical Genetics, 2023

[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."