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9. Whole Exome Sequencing as an Effective Molecular Diagnosis Tool for Craniofacial Fibrous Dysplasia with Ocular Complications. Shen B; Fang Y; Dai Q; Xie Q; Wu W; Wang M Curr Eye Res; 2024 May; ():1-8. PubMed ID: 38708814 [TBL] [Abstract][Full Text] [Related]
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20. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Sobreira N; Schiettecatte F; Boehm C; Valle D; Hamosh A Hum Mutat; 2015 Apr; 36(4):425-31. PubMed ID: 25684268 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]