Associated Papers
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL et al.
Bmc Ophthalmology, 2022
35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM3_ESM.xlsx › gnomAD_with_predictors
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS2.xlsx › Feuil1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C et al.
European Journal of Human Genetics : Ejhg, 2016
Select a paper to view details