Associated Papers
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A et al.
Molecular Biology Reports, 2021
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K et al.
The Journal of Biological Chemistry, 2013
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