Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.T304insFs
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AHI1

NM_001134831.2:p.T304insFs

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

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM et al.

Annals of Neurology, 2006

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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."