Article
Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis.
Omics : a journal of integrative biology - 1 Jul 2023
Khurana Harshit, Muthusamy Babylakshmi, Yanamandra Uday, Garapati Kishore, Premdeep Harikrishnan, Subramanian Shankar, Pandey Akhilesh
Abstract excerpt
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 remain unidentified in ∼80% of cases. To discover genetic variants in unexplained erythrocytosis, we performed whole...
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