Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1

Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, Arianna Panfili, Davide Ognibene, Gabriella Maria Squeo, Giuseppe Merla, Marcella Zollino

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Biochemistry, Genetics and Molecular Biology