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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KNTC1

Variant:p.L438fs

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KNTC1

NM_014708.6:p.L438fs

hg38:chr12:122557423 CTG>N

Associated Papers

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Hirji N et al.

American Journal of Ophthalmology, 2018

29421294 (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."