Associated Papers
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
40796658 (PubMed )
Supplement: 41431_2025_1916_MOESM1_ESM.xlsx › S1_SNV_Data
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
38397244 (PubMed )
Supplement: genes-15-00255-s001.zip › genes-2872356-supplementary.pdf
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