Work

Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants

Year: 2026

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2026.2645357

Authors: Victor Lin, Eugene Yu-Chuan Kang, Laura Liu, Wei-Chi Wu, Nan-Kai Wang

Institution: Chang Gung University

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Research to Prevent Blindness, United Mitochondrial Disease Foundation, Chang Gung University, Chang Gung Memorial Hospital, Linkou, National Institutes of Health

Awards: G1338964090, G414073418, G4382995032, G5991495715, G7358214733

OpenAlex ID: W7141461110

FWCI:

Cites: 16

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