Genetic & Genomic MedicineFrontiers in GeneticsPeer-reviewed
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Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and WFS1 Gene Variant Types
Liam Oiknine, Abby F. Tang, Evan M. Lee…·Fumihiko Urano
Higher WFS1 genotype scores (variant frame, transmembrane location) tracked earlier diabetes mellitus and optic atrophy onset in 324 Wolfram patients, not hearing loss or diabetes insipidus.
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