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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACOX1

Variant:p.T298I

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ACOX1

NM_004035.7:p.T298I

hg38:chr17:75953502 G>A

Associated Papers

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

Nair LS et al.

Pediatric Neurology, 2024

38277958 (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."