Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.K228delFs
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MIP

NM_012064.4:p.K228delFs

Associated Papers

Novel MIP gene mutation causes autosomal-dominant congenital cataract.

Ni JL et al.

International Journal of Ophthalmology, 2024

A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.

Bai C et al.

Bmc Genomics, 2021

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.

Long X et al.

Eye (london, England), 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."