Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG22
Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.
Yan YH et al.
Scientific Reports, 2021
34079006 (PubMed )
Supplement: 41598_2021_91142_MOESM2_ESM.xlsx › FreshFrozen
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
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