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Whole exome sequencing for diagnosis of hereditary thrombocytopenia

Hereditary thrombocytopenia comprises extremely diverse diseases that are difficult to diagnose by phenotypes alone. Definite diagnoses are helpful for patient (Pt) management. To evaluate the role of whole exome sequencing (WES) in these Pts. Cases with unexplained long-standing thrombocytopenia an...

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Detalles Bibliográficos
Autores principales:	Mekchay, Ponthip, Ittiwut, Chupong, Ittiwut, Rungnapa, Akkawat, Benjaporn, Le Grand, Supang Maneesri, Leela-adisorn, Netchanok, Muanpetch, Suwanna, Khovidhunkit, Weerapan, Sosothikul, Darintr, Shotelersuk, Vorasuk, Suphapeetiporn, Kanya, Rojnuckarin, Ponlapat
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	4800
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7676547/ https://www.ncbi.nlm.nih.gov/pubmed/33217855 http://dx.doi.org/10.1097/MD.0000000000023275

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