Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.Q278*
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AHI1

NM_001134831.2:p.Q278*

Associated Papers

Joubert syndrome: Molecular basis and treatment.

Spahiu L et al.

Journal of Mother and Child, 2022

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.

Karamzade A et al.

Molecular Biology Reports, 2021

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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."