Associated Papers
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A et al.
Neurology. Genetics, 2021
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
Gasparin MR et al.
European Journal of Endocrinology, 2009
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