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Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report

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Year: 2025
Type: article
Study design: Case Report
Source: Ophthalmic surgery, lasers & imaging retina
DOI: 10.3928/23258160-20251020-01
Authors: Kwang Min Woo, Fatima Babiker, Muhammad Ahmad R. Khalid, Yunchan Hwang, Nadia K. Waheed
Institutions: Tufts Medical Center, Massachusetts Institute of Technology
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: National Institutes of Health, National Eye Institute
Awards: Novel Optical Diagnostics with Optical Coherence Tomography, Novel ultrahigh speed swept source OCT angiography methods in diabetic retinopathy
OpenAlex ID: W4415996026
FWCI:
Cites: 10
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