Varaico: Literature-Extracted Genetic Variants

Gene:PITRM1
Variant:p.T931M
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PITRM1

NM_014889.4:p.T931M

Associated Papers

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients.

Di Donfrancesco A et al.

Frontiers in Pharmacology, 2023

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

Hytönen MK et al.

Human Genetics, 2021

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.

Brunetti D et al.

Biomedicines, 2021

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y et al.

Journal of Medical Genetics, 2018

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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."