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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D23

Variant:p.Q421_K422Splc

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TBC1D23

NM_001199198.3:p.Q421_K422Splc

hg38:chr3:100302238 G>A

Associated Papers

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.

Bilge S et al.

Italian Journal of Pediatrics, 2022

36076253 (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."