Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.P226L
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AKR1B1

NM_001628.4:p.P226L

Associated Papers

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.

Aversa T et al.

Genes, 2023

Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes.

Kallinikou D et al.

Pediatric Diabetes, 2022

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Li S et al.

Frontiers in Genetics, 2020

A systematic meta-analysis of genetic association studies for diabetic retinopathy.

Abhary S et al.

Diabetes, 2009

The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome.

Escobar-Morreale HF et al.

Endocrine Reviews, 2005

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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."