Varaico: Literature-Extracted Genetic Variants

Gene:TNPO1
Variant:p.D177G
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TNPO1

NM_002270.4:p.D177G

Associated Papers

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

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 MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yang G 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

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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."