Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G92E
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ABCA4

NM_000350.3:p.G92E

Associated Papers

Dual Regulatory Mechanisms of Expression and Mutation Involving Metabolism-Related Genes FDFT1 and UQCR5 during CLM.

Ma YS et al.

Molecular Therapy Oncolytics, 2019

31236441 (PubMed )
Supplement: mmc1.pdf

Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.

Schatz P et al.

Investigative Ophthalmology & Visual Science, 2010

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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."