Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.G177E
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UBIAD1

NM_013319.3:p.G177E

Associated Papers

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy.

Kitazawa K et al.

Cornea, 2018

Mutational spectrum of Korean patients with corneal dystrophy.

Chae H et al.

Clinical Genetics, 2016

Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Lin BR et al.

Journal of Ophthalmology, 2016

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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."