Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

OBJECTIVE: To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship. METHODS: The clinical, laboratory, and genetic features o...

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Detalles Bibliográficos
Autores principales: Wilf-Yarkoni, Adi, Shor, Oded, Fellner, Avi, Hellmann, Mark Andrew, Pras, Elon, Yonath, Hagit, Shkedi-Rafid, Shiri, Basel-Salmon, Lina, Bazak, Lili, Eliahou, Ruth, Greenbaum, Lior, Stiebel-Kalish, Hadas, Benninger, Felix, Goldberg, Yael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7983365/
https://www.ncbi.nlm.nih.gov/pubmed/33763535
http://dx.doi.org/10.1212/NXG.0000000000000578

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