Publications:

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Journal Of Translational Medicine

Pronicka, Ewa E; Piekutowska-Abramczuk, Dorota D; Ciara, Elżbieta E; Trubicka, Joanna J; Rokicki, Dariusz D; Karkucińska-Więckowska, Agnieszka A; Pajdowska, Magdalena M; Jurkiewicz, Elżbieta E; Halat, Paulina P; Kosińska, Joanna J; Pollak, Agnieszka A; Rydzanicz, Małgorzata M; Stawinski, Piotr P; Pronicki, Maciej M; Krajewska-Walasek, Małgorzata M; Płoski, Rafał R

Publication Date: 2016-06-12

Variant appearance in text: DMD: 31+1G>A

PubMed Link: 27290639

Variant Present in the following documents:

• Main text
• 12967_2016_Article_930.pdf

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