Varaico: Literature-Extracted Genetic Variants

Gene:ELOB
Variant:p.Q115R
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ELOB

NM_007108.4:p.Q115R

Associated Papers

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

Wu P et al.

Journal of Human Genetics, 2012

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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."