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 |
---|---|
Zdroj: | In European Journal of Medical Genetics September 2019 62(9) |
Databáze: | ScienceDirect |
Externí odkaz: |