首页/数据集/Tables S1 - Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Tables S1 - Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Figshare2016-01-18 更新2026-04-29 收录

神经遗传病分子诊断

CACNA1A基因突变分析

数据链接：

https://figshare.com/articles/dataset/Identification_of_a_Novel_Nonsense_Mutation_p_Tyr1957Ter_of_CACNA1A_in_a_Chinese_Family_with_Episodic_Ataxia_2__/157290 数据链接链接失效反馈

官方服务：

资源简介：

This file includes table S1 and S2. (DOC)

应用场景：

创建时间：

2016-01-18

神经遗传病分子诊断

FOXG1基因突变分析

BackgroundFOXG1-related encephalopathy, also known as FOXG1 syndrome or FOXG1-related disorder, affects most aspects of development and causes microcephaly and brain malformations. This syndrome was p

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Non-Invasive Detection of Allele-Specific CRISPR-SaCas9-KKH Disruption of TOR1A DYT1 Allele in A Xenograft Mouse Model

CRISPRi基因编辑

神经遗传病分子诊断

DYT1 dystonia is a neurological movement disorder characterized by a dominant 3-base pair deletion (dGAG) in the TOR1A gene. This study demonstrates a gene editing approach that selectively targets

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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

神经遗传病分子诊断

外显子组测序应用

BackgroundDiagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called “diagnostic odysseys”. Previous

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Additional file 1: Table S1. of Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

神经遗传病分子诊断

外显子组测序数据分析

Summary of clinical features and disease/candidate variants identified. The major clinical features and the disease/candidate variantsÂ as well as the prediction scores and classifications for damagin

Figshare2017-03-10 更新10

神经遗传病分子诊断

脑白质营养不良基因分析

Next Generation Sequencing data of leukodystrophy gene panel analysis and segregation study data

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