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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.G2074insFs

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ABCA4

NM_000350.3:p.G2074insFs

hg38:chr1:94001918 G>GC

Associated Papers

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Pfau M et al.

Jci Insight, 2022

35076026 (PubMed )

Supplement: jciinsight-7-155373-s142.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."