https://action.org.uk/research/startle-disease-hunting-down-elusive-genes
Startle disease: hunting down elusive genes | Action Medical Research
Explore Action Medical Research's dedicated efforts to unravel the genetic mysteries of startle disease, aiming to improve diagnosis and treatment.
action medical researchstartle diseasehunting downelusivegenes
https://research.usc.edu.au/esploro/outputs/journalArticle/Dual-role-of-dysfunctional-Asc-1-transporter/99975198802621?institution=61USC_INST&skipUsageReporting=true&recordUsage=false
Dual role of dysfunctional Asc-1 transporter in distinct human pathologies - human startle disease...
Human startle disease is associated with mutations in distinct genes encoding glycine receptors, transporters or interacting proteins at glycinergic synapses...
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