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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFHR1

Variant:p.Y235C

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CFHR1

NM_002113.3:p.Y235C

hg38:chr1:196830596 A>G

Associated Papers

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Merinero HM et al.

Kidney International, 2018

28941939 (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."