Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.R124L
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UBIAD1

NM_013319.3:p.R124L

Associated Papers

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Souzeau E et al.

Molecular Genetics & Genomic Medicine, 2022

Corneal Dystrophy in Dutch Belted Rabbits as a Possible Model of Thiel-Behnke Subtype of Epithelial-Stromal TGFβ-Induced Corneal Dystrophy.

Schuh JCL et al.

Toxicologic Pathology, 2021

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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."