Varaico: Literature-Extracted Genetic Variants

Gene:TRAP1
Variant:p.R47*
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TRAP1

NM_016292.3:p.R47*

Associated Papers

Mutation in the mitochondrial chaperone TRAP1 leads to autism with more severe symptoms in males.

Rydzanicz M et al.

Embo Molecular Medicine, 2024

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.

Ugur Iseri SA et al.

Journal of Human Genetics, 2019

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.

Gaare JJ et al.

Brain : a Journal of Neurology, 2018

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.

Fitzgerald JC et al.

Brain : a Journal of Neurology, 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."