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endingPage 1305
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publicationName European journal of human genetics : EJHG
startingPage 1301
bibliographicCitation Robles-Bolivar P, Bächinger D, Parra-Perez AM, Román-Naranjo P, Escalera-Balsera A, Gallego-Martinez A, Eckhard AH, Lopez-Escamez JA. A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss. European Journal of Human Genetics. 2022 Sep 07;30(11):1301–5. doi: 10.1038/s41431-022-01184-w.
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date 2022-09-07-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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https://pubmed.ncbi.nlm.nih.gov/36071244
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language English
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title A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
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Total number of triples: 40.