Publications:

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Journal Of Inherited Metabolic Disease

Koene, S S; Rodenburg, R J RJ; van der Knaap, M S MS; Willemsen, M A A P MA; Sperl, W W; Laugel, V V; Ostergaard, E E; Tarnopolsky, M M; Martin, M A MA; Nesbitt, V V; Fletcher, J J; Edvardson, S S; Procaccio, V V; Slama, A A; van den Heuvel, L P W J LP; Smeitink, J A M JA

Publication Date: 2012-09

Variant appearance in text: NDUFAF2: Trp3X

PubMed Link: 22644603

Variant Present in the following documents:

• 10545_2012_9492_MOESM1_ESM.xls, sheet 1

View BVdb publication page