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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEK1

Variant:p.V212_L213ins0

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NEK1

NM_001199397.3:p.V212_L213ins0

hg38:chr4:169585516 T>TCAGTAC

Associated Papers

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

Hikoya A et al.

Ophthalmic Genetics, 2023

36341712 (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."