Varaico: Literature-Extracted Genetic Variants

Gene:KRT23
Variant:p.N2insFs
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KRT23

NM_015515.5:p.N2insFs

Associated Papers

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Parisi MA et al.

Journal of Medical Genetics, 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."