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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A46

Variant:p.R340H

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SLC25A46

NM_138773.4:p.R340H

hg38:chr5:110761544 G>A

Associated Papers

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives.

Hanaford AR et al.

Orphanet Journal of Rare Diseases, 2022

35668433 (PubMed )

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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."