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资源简介：
NHLBI Exome Sequencing Project (ESP) Variant.
应用场景：
创建时间：
2013-03-13
相关数据集
GNAQ pathways in port-wine stain
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
Sequencing results of SLC19A3 in dogs with AHE.
Sequencing results of SLC19A3 in dogs with AHE.
Figshare2015-12-02 更新30
Pedigree analysis in three dogs diagnosed with PRA and they average relatedness with breed population.
Pedigree analysis in three dogs diagnosed with PRA and they average relatedness with breed population.
NIAID Data Ecosystem20
A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures
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
Summary of biophysical parameters of LCav3 channel variants containing exons 8b and 25c expressed in HEK-293T cells, with one-way analysis of variance to assess statistical significance.
n.s. not significant; *p<0.05; **p<0.005; ***p<0.001.
NIAID Data Ecosystem30
