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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELOC

Variant:p.S87_P91del0

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ELOC

NM_005648.4:p.S87_P91del0

hg38:chr8:73946696 AGGAATCTCGGTG>A

Associated Papers

Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.

Andreou A et al.

Human Molecular Genetics, 2022

35323939 (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."