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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D24

Variant:p.R214C

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TBC1D24

NM_001199107.2:p.R214C

hg38:chr16:2496788 C>T

Associated Papers

Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.

Tian X et al.

Pediatric Research, 2026

41617776 (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."