Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D32
Variant:p.M360_H361Splc
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TBC1D32

NM_152730.6:p.M360_H361Splc

Associated Papers

Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review.

Eiumtrakul W et al.

Journal of Human Genetics, 2025

Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.

Sangermano R et al.

Advances in Experimental Medicine and Biology, 2025

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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."