Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.V107I
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MIP

NM_012064.4:p.V107I

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

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

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.

Zhou Z et al.

Experimental and Therapeutic Medicine, 2018

A novel MIP mutation in familial congenital nuclear cataracts.

Qin L et al.

European Journal of Medical Genetics, 2016

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

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

Hu S et al.

Plos One, 2012

A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.

Su D et al.

Molecular Vision, 2012

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

Wang KJ et al.

Molecular Vision, 2011

A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yang G et al.

Molecular Vision, 2011

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

Xiao X et al.

Molecular Vision, 2011

Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

Zhou Z 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

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

Wang W et al.

Molecular Vision, 2010

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L et al.

Investigative Ophthalmology & Visual Science, 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."