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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.I994_T996delFs

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ABCA4

NM_000350.3:p.I994_T996delFs

hg38:chr1:94044675 GGTTTCAAT>G

Associated Papers

Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration.

Abousy M et al.

Ophthalmology Science, 0

37869022 (PubMed )

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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."