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Mapping the Genetic Landscape of Treatable Inherited Metabolic Disorders in a Large Middle Eastern Biobank

Geethanjali Devadoss Gandhi,Elbay Aliyev,Najeeb Syed,Fazulur Rehaman Vempalli,Chadi Saad,Hamdi Mbarek, Omayma Al-Saei,Aljazi Al-Maraghi,Mona Abdi,Navaneethakrishnan Krishnamoorthy,Ramin Badii, Ammira A. Qatar Genome Program Res Consortium,Ammira A. Akil,Tawfeg Ben-Omran,Khalid A. Fakhro

GENETICS IN MEDICINE（2024）

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关键词
Carrier frequency,Inbreeding coefficient,Inherited metabolic disorders,Middle Eastern population,VUS reclassification
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