Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.R113*
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MIP

NM_012064.4:p.R113*

Associated Papers

A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.

Yu Y et al.

American Journal of Medical Genetics. Part A, 2024

Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.

Chen C et al.

Investigative Ophthalmology & Visual Science, 2024

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

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

Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.

Jiang B et al.

Scientific Reports, 2017

Nonsense suppression therapies in ocular genetic diseases.

Wang X et al.

Cellular and Molecular Life Sciences : Cmls, 2015

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

Shentu X et al.

Plos One, 2015

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.

Yu Y et al.

Bmc Medical Genetics, 2014

A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.

Ding X et al.

Plos One, 2014

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

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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."