Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family
Hongjun Deng, Jiaoyue Zhang, Feng Zhu, Xiu‐Ling Deng, Yuan Li
Topics & Concepts
Wolfram syndromeGeneIdentification (biology)GeneticsDiabetes mellitusChinese familyMedicineBiologyComputational biologyBioinformaticsInternal medicineEndocrinologyBotanyEndoplasmic Reticulum Stress and DiseaseAdenosine and Purinergic SignalingGenetics and Neurodevelopmental Disorders