Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.I248L
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SLC25A46

NM_138773.4:p.I248L

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_S4

Assessment of SLC25A46 variants in idiopathic Parkinson's disease.

Schneider Z et al.

Parkinsonism & Related Disorders, 2026

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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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."