Associated Papers
Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.
Lan SC et al.
Molecular Biology Reports, 2025
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P et al.
Npj Genomic Medicine, 2019
31452935 (PubMed )
Supplement: 41525_2019_93_MOESM12_ESM.xlsx › de_novo_SNV_indel
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