Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.G1439C
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ANK2

NM_001148.6:p.G1439C

Associated Papers

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

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.

Ichikawa M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2016

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."