Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.N370S
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KCNJ2

NM_000891.3:p.N370S

Associated Papers

Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.

Do QB et al.

Npj Parkinson's Disease, 2024

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson's disease.

Mubariz F et al.

Frontiers in Neuroscience, 2023

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson's Disease.

Usenko T et al.

Genes, 2021

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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."