De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Autor: Voulgaridou, Aikaterini *, Elgammal, Yasmin *, Husami, Ammar *, Emberesh, Sana *, Seu, Katie, Ramamoorthy, Mahesh *, Trump, Lisa *, Barasa, Nathaniel *, Nelson, Adam S., Lorsbach, Robert B. *, Romano, Laurel *, Salomonis, Nathan A. *, Zhang, Wenying *, Lutzko, Carolyn *, Kalfa, Theodosia A.
Zdroj: In Blood 15 November 2022 140 Supplement 1:1234-1235
Databáze: ScienceDirect