Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022, Vol.188 (8), p.2466-2471
Main Authors: Yagasaki, Hideaki, Sano, Fumikazu, Narusawa, Hiromune, Watanabe, Daisuke, Kaga, Yoshimi, Kobayashi, Koji, Asano, Yoshihiro, Nagata, Miho, Yonei, Ayumi, Inukai, Takeshi
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.62873