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科學家利用蝌蚪發現了新遺傳疾病 發表在《美國人類遺傳學期刊》(The American Journal Of Human Genetics) 的研究顯示，科學家發現了一種罕見遺傳疾病，名為GRIA1的基因突變會導致兒童大腦發育異常，智力發展遲緩，多數患者有…
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
Overview of attention for article published in American Journal of Human Genetics, June 2022
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