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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEK8

Variant:p.*693delFs

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NEK8

NM_178170.3:p.*693delFs

hg38:chr17:28741984 CT>C

Associated Papers

[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].

Avila-Jaque D et al.

Andes Pediatrica : Revista Chilena De Pediatria, 2024

38801368 (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."