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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D23

Variant:p.F171fs

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TBC1D23

NM_001199198.3:p.F171fs

hg38:chr3:100290612 TTC>N

Associated Papers

Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.

Liu K et al.

Human Genomics, 2025

40581672 (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."