Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.Q832R
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SYNJ1

NM_203446.3:p.Q832R

Associated Papers

Dysfunction of synaptic endocytic trafficking in Parkinson's disease.

Ng XY et al.

Neural Regeneration Research, 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

36148638 (PubMed )
Supplement: MGG3-11-e2064-s001.xlsx › data

A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.

Xie F et al.

Parkinsonism & Related Disorders, 2019

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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."