Varaico: Literature-Extracted Genetic Variants

Gene:IPO13
Variant:p.R111C
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IPO13

NM_014652.4:p.R111C

Associated Papers

Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.

Huang XF et al.

Experimental & Molecular Medicine, 2018

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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."