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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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
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container_end_page 1606
container_issue 6
container_start_page 1599
container_title American journal of medical genetics. Part A
container_volume 191
creator 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
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doi_str_mv 10.1002/ajmg.a.63170
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title 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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