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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A46

Variant:p.F24delFs

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SLC25A46

NM_138773.4:p.F24delFs

hg38:chr5:110739188 CT>C

Associated Papers

A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report.

Guillaume A et al.

Frontiers in Pediatrics, 2024

38464896 (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."