dataset related to article: "Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy"

NIAID Data Ecosystem2026-03-12 收录

遗传性神经病变基因诊断

SCN8A基因测序

数据链接：

https://zenodo.org/record/5469042 数据链接链接失效反馈

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资源简介：

dataset contains Sanger Sequencing Analysis: .ab1 (S2939-SCN8A-10F.ab1, S2939-SCN8A-10R.ab1) NGS analysis: .vcf (S2939)

创建时间：

2021-09-08

Supplementary Material for: High Diagnostic Yield of Next Generation Sequencing in Charcot Marie Tooth Patients and a Novel Variant in the NDRG1 Gene

遗传性神经病变基因诊断

下一代测序技术

Introduction:Charcot-Marie-Tooth (CMT) is a disorder that encompasses a group of hereditary neuropathies. The clinical features of CMT is variable due to genetic heterogeneity. This study aimed to eva

DataCite Commons2025-05-15 更新60

Supplementary Material for: High Diagnostic Yield of Next Generation Sequencing in Charcot Marie Tooth Patients and a Novel Variant in the NDRG1 Gene

遗传性神经病变基因诊断

下一代测序临床应用

DataCite Commons2025-05-15 更新60

Table_3_Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.DOCX

遗传性神经病变基因诊断

DST基因变异分析

Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance,

NIAID Data Ecosystem50

Affymetrix SNP array data for an INAD patient

遗传性神经病变基因诊断

SNP芯片数据分析

Infantile neuroaxonal dystrophy (INAD) is an ultra-rare early-onset autosomal recessive neurodegenerative disorder due to PLA2G6 variants. Copy number analysis of SNP arrays was performed on one INAD

NIAID Data Ecosystem60

Identification of autosomal recessive spastic paraplegia with cerebellar ataxia and neuropathy

遗传性神经病变基因诊断

基因突变分析

Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. Background: Autosomal recessive

NIAID Data Ecosystem50

dataset related to article: "Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy"

资源简介：

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