Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.R459P
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SYNJ1

NM_003895.4:p.R459P

Associated Papers

Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Cotrin JC et al.

Metabolic Brain Disease, 2024

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

Maj M et al.

Molecular Genetics & Genomic Medicine, 2023

Mini-review: Synaptojanin 1 and its implications in membrane trafficking.

Choudhry H et al.

Neuroscience Letters, 2021

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.

Lesage S et al.

Frontiers in Neurology, 2021

A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.

Ben Romdhan S et al.

Journal of Molecular Neuroscience : Mn, 2018

SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.

Al Zaabi N et al.

Molecular Genetics & Genomic Medicine, 2018

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.

Kirola L et al.

Parkinsonism & Related Disorders, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."