Refreshing results…
Two novel heterozygous variants in ATP1A3 cause movement disorders
Download from www.nature.comLAMA1 variants were identified Joubert syndrome patient
Download from onlinelibrary.wiley.comA boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies
Download from www.nature.comDe novo ATP1A3 variants cause polymicrogyria
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