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Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis

Erythrocytosis is characterized by an increase in red cells in peripheral blood. Polycythemia vera, the commonest primary erythrocytosis, results from pathogenic variants in JAK2 in ∼98% of cases. Although some variants have been reported in JAK2-negative polycythemia, the causal genetic variants re...

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Detalles Bibliográficos
Autores principales: Khurana, Harshit, Muthusamy, Babylakshmi, Yanamandra, Uday, Garapati, Kishore, Premdeep, Harikrishnan, Subramanian, Shankar, Pandey, Akhilesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357103/
https://www.ncbi.nlm.nih.gov/pubmed/37428608
http://dx.doi.org/10.1089/omi.2023.0059