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Literature DB >> 32858545

Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.

Abstract

Entities: Disease Gene Mutation

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

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2 in total

Authors: Huiying Jin; Haifeng Li; Shu Qiang
Journal: Medicina (Kaunas) Date: 2022-07-20 Impact factor: 2.948

Authors: Yan Cong; Hongxing Jin; Ke Wu; Hao Wang; Dong Wang
Journal: Front Genet Date: 2022-08-15 Impact factor: 4.772

2 in total