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Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

BACKGROUND: Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms of digenic inheritance have been reported. METHODS: We performed exome s...

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Detalles Bibliográficos
Autores principales: Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A., Bamshad, Michael J., Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053831/
https://www.ncbi.nlm.nih.gov/pubmed/30029624
http://dx.doi.org/10.1186/s12881-018-0618-5

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