Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.I776V
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DSC2

NM_024422.6:p.I776V

Associated Papers

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Brandão KO et al.

Stem Cell Reports, 2020

33176122 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_4

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Relevance of molecular testing in patients with a family history of sudden death.

Kauferstein S et al.

Forensic Science International, 2017

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H et al.

Bmc Medical Genomics, 2017

28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf

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

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

McAleer MA et al.

The Journal of Allergy and Clinical Immunology, 2015

Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes.

Gréen A et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Complex patterns of genomic admixture within southern Africa.

Petersen DC et al.

Plos Genetics, 2013

23516368 (PubMed )
Supplement: pgen.1003309.s016.pdf

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Barahona-Dussault C et al.

Clinical Genetics, 2010

Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.

Yu CC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008

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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."