Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.D419N
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DSG2

NM_001943.5:p.D419N

Associated Papers

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

Elfatih A et al.

Human Molecular Genetics, 2022

35348702 (PubMed )
Supplement: supplemental_tables_ddac073.xlsx › Supp._Table_S1

Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience.

Quenin P et al.

Circulation. Arrhythmia and Electrophysiology, 2017

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