Work

Transcriptomic analysis uncovers hidden intronic and synonymous pathogenic variants in red cell membrane disorders

Year: 2025

Type: conference-abstract

Source: Blood

DOI: 10.1182/blood-2025-282

Authors: Wenying Zhang, Yasmin Elgammal, Ammar Husami, Aikaterini Voulgaridou, Haripriya Sakthivel, Marcus Cannon, Leah Bonavita, Michael Grimley, Matthew Heeney, Athina Ntoumaziou, Mary Risinger, Elizabeth Yang, Theodosia Kalfa

Institutions: Cincinnati Children's Hospital Medical Center, University of Cincinnati, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, George Washington University

Language: English

Topic: Erythrocyte Function and Pathophysiology

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4417006734

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