Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.M708K
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ABCA4

NM_000350.3:p.M708K

Associated Papers

Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy.

Chiu HI et al.

Ophthalmology and Therapy, 2025

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2022

35608843 (PubMed )
Supplement: iovs-63-5-28_s010.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."