Database of patients with truncation-type variants in desmoplakin.
收藏NIAID Data Ecosystem2026-03-12 收录
官方服务:
资源简介:
Database of patients with truncation-type variants in desmoplakin.
应用场景:
创建时间:
2021-07-30
相关数据集
A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)
Cardiomyopathy is a major cause of heart failure and sudden cardiac death; several mutations in sarcomeric protein genes have been associated with this disease. Our aim in the present study is to inve
Figshare2016-01-15 更新30
Troponin I mutation associated with Restrictive Cardiomyopathy with mild hypertrophy
In our study, TNNI3 gene exons were sequenced in terms to analyse the association between RCM and TNNI3 gene mutation in Indian Patients. We found a novel variant associated with severe form of restri
NIAID Data Ecosystem20
Clinical characteristics of patients with biallelic or potentially biallelic NRAP variants.
Clinical characteristics of patients with biallelic or potentially biallelic NRAP variants.
Figshare2021-02-03 更新10
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these dis
Figshare2017-12-19 更新20
Summary of individuals with isolated 1p36 deletions and cardiomyopathy identified from the DECIPHER database.
Summary of individuals with isolated 1p36 deletions and cardiomyopathy identified from the DECIPHER database.
Figshare2015-12-02 更新20



