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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D32

Variant:p.G693fs

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TBC1D32

NM_152730.6:p.G693fs

hg38:chr6:121242281 TCC>N

Associated Papers

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

García-Bohórquez B et al.

Human Genomics, 2025

40319332 (PubMed )

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