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Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

BACKGROUND: Hearing loss is a genetically and phenotypically heterogenous disorder. OBJECTIVES: The purpose of this study was to determine the genetic cause underlying the post-lingual progressive hearing loss in two Iranian families. METHODS: We used OtoSCOPE, a next generation sequencing platform...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:J Med Genet
Päätekijät: Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060001/
https://ncbi.nlm.nih.gov/pubmed/29703829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105349
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