Varaico: Literature-Extracted Genetic Variants

Gene:AHI1
Variant:p.I724delFs
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AHI1

NM_001134831.2:p.I724delFs

Associated Papers

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration.

Petrović D et al.

Journal of Pediatric Genetics, 2023

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

Chaki M et al.

Kidney International, 2011

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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."