Article
Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.
Clinical genetics - 1 Feb 2023
Ariste Olivier, de la Grange Pierre, Veitia Reiner A
Abstract excerpt
Clonal hematopoiesis (CH) consists in an abnormal expansion of a hematopoietic stem cell bearing an advantageous somatic variant. A survey of known recurrent somatic missense variants in DNMT3A, SF3B1, SRSF2, and TP53, some of the most prominent genes underlying CH of indeterminate potential (CHIP), in gnomAD noncancer database shows the presence of 73 variants. Many of them reach frequencies higher than 0.01% in...
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