Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.K256R
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SLC25A46

NM_138773.4:p.K256R

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

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

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2

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."