Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.R824C
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DSG2

NM_001943.5:p.R824C

Associated Papers

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 2024

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Nagyova E et al.

Journal of Cardiovascular Translational Research, 2023

37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Shen Y et al.

Nature Communications, 2019

30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

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_S12

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1
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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."