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Burden of Mendelian Disorders in a Large Middle Eastern Biobank

Waleed Aamer,Aljazi Al-Maraghi,Najeeb Syed,Geethanjali Devadoss Gandhi,Elbay Aliyev,Alya A. Al-Kurbi, Omayma Al-Saei,Muhammad Kohailan,Navaneethakrishnan Krishnamoorthy,Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi,Nourhen Agrebi,Fatemeh Abbaszadeh,Ammira S. Al-Shabeeb Akil,Ramin Badii,Tawfeg Ben-Omran,Bernice Lo,Younes Mokrab,Khalid A. Fakhro

Genome Medicine（2024）

Cited 0|Views27

Key words

Mendelian disorders,Rare genetic disease,Genome sequencing,Consanguinity,Qatar,Middle East,Biobank,Arab population,Pathogenic variants

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