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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBL

Variant:p.R135Q

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FBL

NM_001436.4:p.R135Q

hg38:chr19:39839180 C>T

Associated Papers

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.

Kuivenhoven JA et al.

Journal of Lipid Research, 1997

9162740 (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."