Publications
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Filters: Keyword is Mutation and Author is Fu, Shangyi [Clear All Filters]
Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree. J Cell Mol Med. 2024 ;28(1):e18004.
. A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Ophthalmic Genet. 2022 ;43(2):210-217.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
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