Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.N284_Q285delFs
Back to variants list

DSG2

NM_001943.5:p.N284_Q285delFs

Associated Papers

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S10

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Vadgama N et al.

Human Genomics, 2022

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

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

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."