A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
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| Description | scientific article published on 18 April 2016 |
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author: Robert McFarland Philip G. Murray Julian Hamilton-Shield Robert William Taylor Andrew A Morris Peter E. Clayton Monika Oláhová Joanne M Hughes Charlotte L Alston Siobhán O’Sullivan Holger Prokisch Iain P Hargreaves Ellen Crushell Steven J Hardy David Thorburn |
| Publication date | April 18, 2016 |
| Language | English |
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