Norwegian Elkhound black. NESA

NIAID Data Ecosystem2026-03-13 收录

犬脑部疾病

遗传病研究

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJEB45384 数据链接链接失效反馈

官方服务：

资源简介：

Samples from a project on a brain disorder in the dog breed Norwegian elkhound black

创建时间：

2021-12-19

ATM signaling pathway

信号通路

遗传病研究

Ataxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation of

wikipathways.github.io100

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

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

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

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

Norwegian Elkhound black. NESA

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