New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
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| Description | scientific article published on 5 March 2015 |
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author: Rosário Santos Hugo Froufe Conceição Egas Ana Maria Fortuna Ricardo Taipa Isabel Fineza Mário Sousa Jorge Oliveira Manuel Melo Pires Ana Gonçalves |
| Publication date | March 5, 2015 |
| Language | English |
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