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
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
aThe sequences were compared to the reference genome (CanFam 3) from a Boxer. Only variants that were homozygous in the affected Labrador Retriever are reported.
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),
