Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.P46L
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GLI3

NM_000168.6:p.P46L

Associated Papers

Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.

Niida Y et al.

International Journal of Molecular Sciences, 2021

Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey.

Toplak N et al.

Pediatric Rheumatology Online Journal, 2010

Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?

Touitou I et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2004

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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."