Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Aren Elizabeth MarshallLauren BradyEd YehAlan J MearsMelanie LacariaPranesh ChakrabortyMark A TarnopolskyKristin D KernohanPublished in: American journal of medical genetics. Part A (2024)