Varaico: Literature-Extracted Genetic Variants

Gene:KNTC1
Variant:p.E995_E998Fs
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KNTC1

NM_014708.6:p.E995_E998Fs

Associated Papers

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Nassisi M et al.

International Journal of Molecular Sciences, 2022

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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."