Varaico: Literature-Extracted Genetic Variants

Gene:TNPO1
Variant:p.R199_S200insFs
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TNPO1

NM_002270.4:p.R199_S200insFs

Associated Papers

Novel MIP gene mutation causes autosomal-dominant congenital cataract.

Ni JL et al.

International Journal of Ophthalmology, 2024

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS et al.

Human Mutation, 2016

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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."