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Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Pubmed ID: 
33169436
Year: 
2021
Month: 
Jan
Volume: 
42
Issue: 
1
Citation: 
Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, Tan TY, De Paoli-Iseppi R, Clark MB, Christodoulou J, White SM, Thorburn DR, Stroud DA, Stark Z, Simons C. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. HUMAN MUTATION 42 (1) : 19 - 24(2021) PubMed (Grant IDs: GNT1155244, GNT1164479)