Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd
Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.
Wang Y et al.
Translational Vision Science & Technology, 2023
36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S1-SNVs
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
33007923 (PubMed )
Supplement: genes-11-01158-s001.zip › genes-941403-supplementary.xlsx › Supplementary_Table_2
Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.
Nguyen NL et al.
Diagnostics (basel, Switzerland), 2020
32987775 (PubMed )
Supplement: diagnostics-10-00741-s001.zip › diagnostics-900787-supp-xml-2 › Supplementary_Table_S2.xlsx › Sheet1
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation.
Goodyer WR et al.
Circulation. Genomic and Precision Medicine, 2019
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
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
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels.
Stead LF et al.
Bioinformatics (oxford, England), 2011
Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns.
Burg ED et al.
American Journal of Physiology. Cell Physiology, 2010
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