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2014•Journal of Human GeneticsRequires access

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

Saima Siddiqi, Muhammad Ismail, Jaap Oostrik, Saba Munawar, Atika Mansoor, Hannie Kremer, Raheel Qamar, Margit Schraders

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Key concepts: Minigene, Genetics, Frameshift mutation, Splice site mutation, Exon, Intron, Biology, RNA splicing

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A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family — Research Paper | ScholarLens