Two Different Compound Heterozygous Variants Combinations in the Same Family.
作者信息
Biehler Margaux, Ravel Jean-Marie, Tir Mélissa, Calmels Nadège, Schalk Audrey
机构信息
Laboratories of Genetic Diagnosis Institut de Génétique Médicale d'Alsace (IGMA), Strasbourg University Hospitals Strasbourg France.
Department of Neurology Amiens University Hospital Amiens France.
出版信息
Mov Disord Clin Pract. 2023 Mar 20;10(5):845-847. doi: 10.1002/mdc3.13725. eCollection 2023 May.
Abstract
摘要
Zotero 插件