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Case Report

Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert’s syndrome

Woori Janga Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, Korea;c Northwest Gyeonggi Regional Center for Rare Disease, Incheon, KoreaORCID Iconhttps://orcid.org/0000-0001-8376-0133View further author information
ORCID Icon,
Dong Jun Hab Department of Pediatrics, College of Medicine, Inha University, Incheon, KoreaORCID Iconhttps://orcid.org/0000-0002-4331-6801View further author information
ORCID Icon,
Chung Hyun Nahma Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, KoreaORCID Iconhttps://orcid.org/0000-0002-9721-0578View further author information
ORCID Icon,
Jisun Parkb Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea;c Northwest Gyeonggi Regional Center for Rare Disease, Incheon, KoreaORCID Iconhttps://orcid.org/0000-0003-3793-6577View further author information
ORCID Icon,
Su Jin Kimb Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea;c Northwest Gyeonggi Regional Center for Rare Disease, Incheon, KoreaORCID Iconhttps://orcid.org/0000-0003-0893-0512View further author information
ORCID Icon,
Ji-Eun Leeb Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea;c Northwest Gyeonggi Regional Center for Rare Disease, Incheon, KoreaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-7386-0015View further author information
ORCID Icon &
Yeonsook Moona Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, Korea;c Northwest Gyeonggi Regional Center for Rare Disease, Incheon, KoreaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-0135-6477View further author information
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Article: 2343163 | Received 29 Nov 2023, Accepted 07 Apr 2024, Published online: 24 Apr 2024

References

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