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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUSC3

Variant:p.S272T

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TUSC3

NM_006765.4:p.S272T

hg38:chr8:15730682 G>C

Associated Papers

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Nanetti L et al.

Journal of Neurology, 2019

30515630 (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."