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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.L869R

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ABCA4

NM_000350.3:p.L869R

hg38:chr1:94051680 A>C

Associated Papers

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Orlic-Milacic M et al.

Biorxiv : the Preprint Server for Biology, 2023

37904913 (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."