Varaico: Literature-Extracted Genetic Variants

Gene:KATNIP
Variant:p.S950insFs
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KATNIP

NM_015202.5:p.S950insFs

Associated Papers

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Srivastava S et al.

Human Molecular Genetics, 2017

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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."