A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.
Molecular genetics & genomic medicine(2023)
摘要
Our results expand the mutation spectrum of VCAN and further confirm that the splicing sites for exon 8 are mutation hot spots. Patients with WVR may present high phenotype variation; therefore, molecular analysis is very important for precise diagnosis of patients with inherited vitreoretinopathy.
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关键词
VCAN
,Wagner vitreoretinopathy,splicing variant,versican transcripts
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