Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.S1021delFs
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DSG2

NM_001943.5:p.S1021delFs

Associated Papers

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3B

Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

Adler A et al.

Circulation. Arrhythmia and Electrophysiology, 2016

26743238 (PubMed )
Supplement: circae_circae-2015-003440-t_supp1.pdf

Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy.

Perrin MJ et al.

Journal of the American College of Cardiology, 2013

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Baskin B et al.

Human Genetics, 2013

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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."