Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.G213delFs
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MIP

NM_012064.4:p.G213delFs

Associated Papers

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.

Jones JL et al.

Clinical Genetics, 2025

Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.

Fox JC et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 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

A novel causative mutation for congenital cataract and its underlying pathogenesis.

Xiu Y et al.

Ophthalmic Genetics, 2019

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

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

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 MIP associated with congenital nuclear cataract in a Chinese family.

Wang KJ 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

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

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."