A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss

Artículo original

Year: 2022

Robles-Bolivar, P; Bachinger, D; Parra-Perez, AM; Roman-Naranjo, P; Escalera-Balsera, A; Gallego-Martinez, A; Eckhard, A.H.; Lopez-Escamez, JA

Title: EUROPEAN JOURNAL OF HUMAN GENETICS

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