Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.D150H
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MIP

NM_012064.4:p.D150H

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

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 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

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

Yuan C et al.

Ophthalmic Genetics, 2018

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

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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."