Varaico: Literature-Extracted Genetic Variants

Gene:RHOT1
Variant:p.K689K
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RHOT1

NM_001033568.3:p.K689K

Associated Papers

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

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."