Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.M158Splc
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GLI3

NM_000168.6:p.M158Splc

Associated Papers

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Baas M et al.

Journal of Medical Genetics, 2021

32591344 (PubMed )
Supplement: jmedgenet-2020-106948supp001.pdf

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Jamsheer A et al.

Journal of Applied Genetics, 2012

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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."