Associated Papers
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants
Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.
Yu D et al.
Computational and Structural Biotechnology Journal, 2020
Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes.
Bhattacharya G et al.
Biochemistry, 2005
A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.
Bhattacharya G et al.
Journal of Cell Science, 2004
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