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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe ( OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract (2018)

First Author: Shalaby Ahmed K.

Attributed to: The role of OCRL1 in endocytic membrane traffic funded by MRC

Abstract

No abstract provided

Bibliographic Information

Type: Journal Article/Review

Volume: 24

Parent Publication: MOLECULAR VISION

ISSN: 1090-0535