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 )
Supplement: 40246_2025_759_MOESM1_ESM.docx
Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2025
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B et al.
Jci Insight, 2023
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