Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G72E
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ABCA4

NM_000350.3:p.G72E

Associated Papers

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Scott HA et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."