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Paper Report for: Pronicka_2016_J.Transl.Med_14_174

Reference

Title: New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska-Wieckowska A, Pajdowska M, Jurkiewicz E, Halat P and Ploski R <6 more author(s)>
Ref: J Transl Med, 14:174, 2016 : PubMed

        



Related information

Gene_Locus| human-SERAC1
Mutation | c.1822_1828+10delins9_human-SERAC1,



Citations formats

Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska-Wieckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosinska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Ploski R (2016)
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre
J Transl Med 14: 174

Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska-Wieckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosinska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Ploski R (2016)
J Transl Med 14: 174



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