Associated Papers
Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.
Zheng H et al.
Genome Research, 2022
35760561 (PubMed )
Supplement: supp_gr.276562.122_Supplemental_Dataset.xlsx › Supplemental_Dataset_A
Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Pauw RJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2009
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
Kamarinos M et al.
Human Mutation, 2001
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