Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.G1340R
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GLI2

NM_001374353.1:p.G1340R

Associated Papers

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

Marakhonov AV et al.

Orphanet Journal of Rare Diseases, 2020

32791987 (PubMed )
Supplement: 13023_2020_1484_MOESM1_ESM.xlsx › Hoja1
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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."