Data Set 1.xlsx

Figshare2018-09-26 更新2026-04-08 收录

遗传病研究

线粒体疾病分析

数据链接：

https://figshare.com/articles/Data_Set_1_xlsx/7093559/1 数据链接链接失效反馈

官方服务：

资源简介：

Collection of clinical and molecular data of 46 Italian subjects with a LHON-causing mutation in homoplasmy and 90 control subjects.<br>

创建时间：

2018-09-26

GNAQ pathways in port-wine stain

遗传病研究

生物医学

Port-wine stains are caused by somatic, mosaic mutations in the GNAQ gene. The pathogenic variant is usually a p.R183Q (c.G548A) mutation in guanine nucleotide binding protein alpha subunit q (GNAQ),

wikipathways.github.io70

C om prehensive Genetic A n alysis and Prenatal Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature

遗传病研究

生长障碍

3M syndrome is a rare autosomal recessive genetic disorder characterized by significantintrauterine and postnatal growth restriction.

Figshare2024-09-13 更新30

Sequencing results of SLC19A3 in dogs with AHE.

遗传病研究

基因测序分析

Sequencing results of SLC19A3 in dogs with AHE.

Figshare2015-12-02 更新30

A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures

遗传病研究

神经发育障碍

Human voltage-gated potassium (Kv) channels are expressed by a 40-member family of genes essential for normal electrical activity and with numerous associations and linkages to excitability disorder

DataCite Commons2025-04-01 更新30

Data from: Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila

神经生物学

遗传病研究

Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying

DataCite Commons2025-04-01 更新30

Data Set 1.xlsx

资源简介：

相关数据集