Varaico: Literature-Extracted Genetic Variants

Gene:CIT
Variant:p.N370S
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CIT

NM_001206999.2:p.N370S

Associated Papers

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 2023

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome.

Roeben B et al.

Journal of Neurology, 2019

Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.

Ling H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

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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."