An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2023, Vol.191 (6), p.1614-1618
Main Authors: Kashima, Daniel T, Sloan-Heggen, Christina M, Gottlieb-Smith, Rachel J, Barone Pritchard, Amanda
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.63176