Articles with "novel ndp" as a keyword



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Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy

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Published in 2022 at "European Journal of Ophthalmology"

DOI: 10.1177/11206721221074209

Abstract: Purpose To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR). Methods Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive… read more here.

Keywords: exudative vitreoretinopathy; family; familial exudative; whole exome ... See more keywords