Associated Papers
Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss.
Ai F et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome.
Wang H et al.
Human Mutation, 2025
40677926 (PubMed )
Supplement: 6391770.f1.docx
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM5_ESM.xlsx › Sheet1
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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