Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.I749delFs
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GLI3

NM_000168.6:p.I749delFs

Associated Papers

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.

Wang L et al.

Bmc Ophthalmology, 2026

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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."