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PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.

Retina (Philadelphia, Pa.) - 1 Apr 2022

Chan Li-Wei, Sung Yu-Chi, Wu Dung-Chi, Chen Chien-Yu, Yang Chang-Hao, Yang Chung-May, Chen Pei-Lung, Chen Ta-Ching

Abstract excerpt

PURPOSE: To investigate the relationship between different CYP4V2 disease-causing variants and disease severity in Bietti crystalline dystrophy (BCD). METHODS: Twenty-one subjects from 19 unrelated families with a clinical diagnosis of BCD were enrolled. A novel severity prediction score for BCD based on the predicted molecular impact of CYP4V2 variants was applied for grouping and subsequent analyses. The more...

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PMID: 34923510
DOI: 10.1097/IAE.0000000000003381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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