Associated Papers
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 2025
40056900 (PubMed )
Supplement: NIHMS2069108-supplement-7.xlsx › ITSN1_PTVs
Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.
Liaqat K et al.
Clinical Genetics, 2024
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Bruel AL et al.
European Journal of Human Genetics : Ejhg, 2022
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