Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.W202*
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MIP

NM_012064.4:p.W202*

Associated Papers

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H et al.

Bmc Medical Genomics, 2025

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

Yahalom C et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Novel MIP gene mutation causes autosomal-dominant congenital cataract.

Ni JL et al.

International Journal of Ophthalmology, 2024

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

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM et al.

Human Genetics, 2013

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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."