Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.M1T
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GJA8

NM_005267.5:p.M1T

Associated Papers

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J et al.

Human Genetics, 2019

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

Ding X et al.

Plos One, 2014

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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."