In family 2, the proband carried one variant in the SCN1A gene (c.3744_3752del) associated with twitching, whereas it was not detected in parents (Figure 1B).

NIAID Data Ecosystem10

A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)

遗传性心肌病

基因突变关联分析

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40

Chi-Square and Mutual Information Profiling of SARS-CoV-2 Spike Mutation Clusters in a Comprehensive Global Dataset

基因突变关联分析

刺突蛋白进化动力学

This dataset presents the results of a large-scale statistical analysis of mutation co-occurrence patterns in the SARS-CoV-2 spike protein derived from 158,342 globally distributed viral genomes .

Zenodo2025-07-16 更新30

Homo sapiens Raw sequence reads. Homo sapiens

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相关数据集