Varaico: Literature-Extracted Genetic Variants

Gene:SNTA1
Variant:p.E363A
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SNTA1

NM_003098.3:p.E363A

Associated Papers

Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants.

Jimenez-Tellez N et al.

Stem Cell Research, 2023

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.

Extramiana F et al.

Scientific Reports, 2018

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
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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."