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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOL9

Variant:p.S220C

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NOL9

NM_024654.5:p.S220C

hg38:chr1:6549656 G>C

Associated Papers

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.

Bu J et al.

Indian Journal of Ophthalmology, 2016

27380975 (PubMed )

Supplement: IJO-64-364_Suppl2.pdf

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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."