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    A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

    A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report by Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

    Published 2019
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