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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.G373S

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LDLR

NM_000527.5:p.G373S

hg38:chr19:11111570 G>A

Associated Papers

Pharmacological chaperone therapy for Fabry disease.

Ishii S

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012

22241068 (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."