Varaico: Literature-Extracted Genetic Variants

Gene:ITSN1
Variant:p.V1587Splc
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ITSN1

NM_003024.3:p.V1587Splc

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
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