A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes

Background More than 1500 variants in the ATP-binding cassette, sub-family A, member 4 (ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from aggressive childhood-onset chorioretinopathy to milder late-onset macular disease. Genotype-phenotype correlation studies have bee...

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Bibliographic Details
Main Authors: Winston Lee, Jana Zernant, Pei-Yin Su, Takayuki Nagasaki, Stephen H. Tsang, Rando Allikmets
Format: Article
Language:English
Published: American Society for Clinical investigation 2022-01-01
Series:JCI Insight
Subjects:
Genetics
Ophthalmology
Online Access:https://doi.org/10.1172/jci.insight.156154

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