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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.I522F

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LDLR

NM_000527.5:p.I522F

hg38:chr19:11113740 A>T

Associated Papers

Identification of two novel LDLR variants by Next Generation Sequencing.

Moffa S et al.

Annali Dell'istituto Superiore Di Sanita, 0

32242544 (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."