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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEK1

Variant:p.L114_K117ins1

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NEK1

NM_001199397.3:p.L114_K117ins1

hg38:chr4:169590770 G>GTTTCAGGGCCAA

Associated Papers

Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.

Li X et al.

Investigative Ophthalmology & Visual Science, 2023

38153748 (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."