Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.H137R
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SLC25A46

NM_138773.4:p.H137R

Associated Papers

Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathies.

Yu H et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646756 (PubMed )
Supplement: media-1.xlsx › Table_S2

Assessment of SLC25A46 variants in idiopathic Parkinson's disease.

Schneider Z et al.

Parkinsonism & Related Disorders, 2026

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Reynier P et al.

Neuro-ophthalmology (aeolus Press), 2026

Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.

Lopriore P et al.

Movement Disorders Clinical Practice, 2024

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.

Schuettpelz J et al.

Life Science Alliance, 2023

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.

Bitetto G et al.

Parkinsonism & Related Disorders, 2020

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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."