Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.K43E
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SMAD9

NM_001127217.3:p.K43E

Associated Papers

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

El Sissy FN et al.

Molecular Diagnosis & Therapy, 2025

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Welch CL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

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

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s10.xls › S9-Cell_line_mutations

Genetics and genomics of pulmonary arterial hypertension.

Soubrier F et al.

Journal of the American College of Cardiology, 2013

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 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."