Varaico: Literature-Extracted Genetic Variants

Gene:RHOT1
Variant:p.T351A
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RHOT1

NM_001033566.3:p.T351A

Associated Papers

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.

Dos Santos JCC et al.

Molecular Neurobiology, 2024

Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1.

Chemla A et al.

Stem Cell Research, 2023

The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset.

Periñán MT et al.

Neurobiology of Aging, 2021

The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease.

Grossmann D et al.

Frontiers in Neurology, 2020

Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients.

Berenguer-Escuder C et al.

Journal of Clinical Medicine, 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."