Search details
1.
Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo.
Hum Mol Genet
; 31(8): 1278-1292, 2022 04 22.
Article
in English
| MEDLINE | ID: mdl-34726245
2.
Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model.
Exp Eye Res
; 234: 109596, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37479075
3.
A novel statistical method for interpreting the pathogenicity of rare variants.
Genet Med
; 23(1): 59-68, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32884132
4.
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Genet Med
; 23(3): 488-497, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33077892
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