Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
| Autor: | Rosti, Giulia, Tassano, Elisa, Bossi, Simone, Divizia, Maria Teresa, Ronchetto, Patrizia, Servetti, Martina, Lerone, Margherita, Pisciotta, Livia, Mancardi, Maria Margherita, Veneselli, Edvige, Puliti, Aldamaria |
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| Zdroj: | In European Journal of Medical Genetics September 2019 62(9) |
| Databáze: | ScienceDirect |
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