Varaico: Literature-Extracted Genetic Variants

Gene:ELOC
Variant:p.T78A
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ELOC

NM_005648.4:p.T78A

Associated Papers

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

Lee JS et al.

Bmc Medical Genetics, 2016

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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."