Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.K254Splc
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GBA1

NM_000157.4:p.K254Splc

Associated Papers

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

A common polymorphism in SNCA is associated with accelerated motor decline in GBA-Parkinson's disease.

Stoker TB et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile.

Lerche S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.

Moors TE et al.

Molecular Neurobiology, 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."