Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.N370S
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TP63

NM_003722.5:p.N370S

Associated Papers

Mutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers.

Thaler A et al.

Journal of Parkinson's Disease, 2021

Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.

Taipale M

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019

Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.

Lang C et al.

Cell Stem Cell, 2019

Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations.

Collins LM et al.

F1000research, 2017

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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."