HIGHLIGHTS
- who: A pathogenic in-frame deletion-insertion and collaborators from the Columbia University e of Human Nutrition, Columbia Stem Cell Initiative, New York, New York, USA have published the research work: BEST1 phenocopies Stargardt disease Jonas Children`s Vision Care and Bernard and Shirlee Brown Glaucoma, in the Journal: (JOURNAL)
- future: Given the possible novelty of the variant and the phenotype future studies of the functional impact of this variant as well as additional genotype-phenotype correlation in larger cohorts may help clarify the similarity in disease pathophysiology between BVMD and Stargardt disease.
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