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Characteristics of <i>RYR2</i> P2328S mutation carriers by symptom status.

NIAID Data Ecosystem2026-03-12 收录

数据链接：

https://figshare.com/articles/dataset/Characteristics_of_i_RYR2_i_P2328S_mutation_carriers_by_symptom_status_/13375724 数据链接链接失效反馈

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资源简介：

Characteristics of RYR2 P2328S mutation carriers by symptom status.

应用场景：

创建时间：

2020-12-14

鸟类形态与发育

基因型-表型关联分析

PROG = line ID SPECIES = common species name ID = sample ID DATE = day of capture (day 1 = January 1) AGE = age of individual (0 = second year; 1 = older) SEX = sex of the individual (1 = male; 2 = fe

DataONE2015-03-17 更新90

In vivo Ryr2 editing corrects catecholaminergic polymorphic ventricular tachycardia

基因治疗

遗传性心律失常

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited arrhythmia disorder most commonly caused by missense mutations in the RyR2 gene. The goal of this study was to determ

NIAID Data Ecosystem40

International Microvillus Inclusion Disease Patient Registry

罕见遗传病登记

基因型-表型关联分析

The International Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations

知名数据库30

Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging

基因型-表型关联分析

肥厚型心肌病CMR表型

Purpose HCM is the most common inherited cardiomyopathy. Historically, there has been poor correlation between genotype and phenotype. However, CMR has the potential to more accurately assess disease

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Table_1_Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.DOCX

遗传性ATTR心肌病临床特征

基因型-表型关联分析

BackgroundHereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is a genotypically heterogeneous disorder with a poor prognosis. There is limited literature describing the variants responsible for

NIAID Data Ecosystem40

Characteristics of <i>RYR2</i> P2328S mutation carriers by symptom status.

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