Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.Y832C
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SYNJ1

NM_003895.4:p.Y832C

Associated Papers

Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India.

Farsana MK et al.

Journal of Movement Disorders, 2026

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

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.

Lesage S et al.

Frontiers in Neurology, 2021

A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.

Paesmans J et al.

Elife, 2020

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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."