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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KATNIP

Variant:p.L1345delFs

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KATNIP

NM_015202.5:p.L1345delFs

hg38:chr16:27769919 TC>T

Associated Papers

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Tedesco MG et al.

Genes, 2025

40428346 (PubMed )

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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."