Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.C1008Y
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ABCA4

NM_000350.3:p.C1008Y

Associated Papers

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

Vázquez-Domínguez I et al.

Investigative Ophthalmology & Visual Science, 2022

35608844 (PubMed )
Supplement: iovs-63-5-27_s001.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."