The Application of Clinical Genetics

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The Application of Clinical Genetics - 最新文献

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied

Pub Date : 2024-07-01 DOI: 10.2147/tacg.s465859 Shuping Zhang, Yamei Ma, Xiu Zang, Hao Heng, Xuekui Liu, Gangshan Peng, Ran Liu, Jun Liang, H. Geng

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report

Pub Date : 2024-07-01 DOI: 10.2147/tacg.s465575 G. Ręka, Katarzyna Wojciechowska, Monika Lejman

Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer

Pub Date : 2024-05-01 DOI: 10.2147/tacg.s444546 Diana Sierra-Díaz, Rodrigo Cabrera, Laura Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Restrepo, Oscar Ortega-Recalde, Adrien Morel

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