Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.G30insFs
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PARK7

NM_007262.5:p.G30insFs

Associated Papers

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

Fujita M et al.

Frontiers in Neuroscience, 2024

38817911 (PubMed )
Supplement: Table_1.DOCX

Cranial Dystonia as an Isolated Presentation of DJ-1 Disease: Case Report and Literature Review.

Rajapakshe I et al.

Movement Disorders Clinical Practice, 2023

36825062 (PubMed )
Supplement: supplement_1.docx

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Stephenson SE et al.

Parkinsonism & Related Disorders, 2019

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