A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2023, Vol.191 (6), p.1599-1606
Main Authors: Kiss, Sharmila, Christodoulou, John, Thorburn, David R, Freeman, Jeremy L, Kornberg, Andrew J, Mandelstam, Simone, Compton, Alison G, Cummings, Beryl, Pais, Lynn, Yaplito-Lee, Joy, White, Susan M
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.63170