A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022, Vol.188 (8), p.2429-2433
Main Authors: Reyes Diaz, Jacqueline V, Jin, Yulin, Garber, Kathryn, Cossen, Kristina M, Li, Yujing, Jin, Peng, Li, Hong, Ham, Jee-Young Nina
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.62843