Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S483Splc
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SMAD4

NM_005359.6:p.S483Splc

Associated Papers

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

[Genetics and genomics of pulmonary arterial hypertension].

Soubrier F et al.

Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2014

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10

Genetics and genomics of pulmonary arterial hypertension.

Soubrier F et al.

Journal of the American College of Cardiology, 2013

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.

Machado RD

Scientifica, 2012

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

Nasim MT et al.

Human Mutation, 2011

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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."