Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Keyphrases

• Homozygote 100%
• Hearing Impairment 100%
• Gain-of-function mutation 100%
• Cochlin 100%
• COCH Gene 100%
• Loss Function 40%
• Vestibular 20%
• Heterozygote 20%
• Genetic Counseling 20%
• Gene Products 20%
• COS-7 Cells 20%
• Gene Function 20%
• RNA Transcription 20%
• Dominant Negative Effect 20%
• Recessive Variants 20%
• Autosomal Recessive Nonsyndromic Hearing Loss (ARNSHL) 20%
• Frameshift Variant 20%
• DFNB110 20%
• DFNA9 20%

Biochemistry, Genetics and Molecular Biology

• Homozygote 100%
• Wild Type 50%
• Genetic Counseling 50%
• Genetic Carrier 50%
• Heterozygote 50%
• Gene Product 50%
• Autosomal Dominant Inheritance 50%
• RNA Transcription 50%
• Gene Function 50%