Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.L1146fs
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GLI3

NM_000168.6:p.L1146fs

Associated Papers

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

Debeer P et al.

American Journal of Medical Genetics. Part A, 2003

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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."