Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.W202_V203Splc
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MIP

NM_012064.4:p.W202_V203Splc

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

The relationship between major intrinsic protein genes and cataract.

Sun W et al.

International Ophthalmology, 2021

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y et al.

Scientific Reports, 2017

The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.

Hu S et al.

Plos One, 2012

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.

Xiao X et al.

Molecular Vision, 2011

Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.

Jin C et al.

Molecular Vision, 2010

Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.

Jiang J et al.

Molecular Vision, 2009

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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."