Identification of a novel splice variant in < em > SEC23B < /em > gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome

CONCLUSION: Identification of the novel splice variant in this study further expands the spectrum of known SEC23B gene mutations. Molecular genetic approaches can lead to accurate diagnosis and management of CDA Ⅱ patients, particularly for those with GS coexisting.PMID:38655690 | DOI:10.1080/16078454.2024.2343163
Source: Hematology - Category: Hematology Authors: Source Type: research