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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UMOD

Variant:p.L231F

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UMOD

NM_003361.4:p.L231F

hg38:chr16:20348610 G>A

Associated Papers

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.

Yuan Y et al.

Bmc Genetics, 2016

26832775 (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."