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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENG

Variant:p.A55_A57del0

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ENG

NM_001114753.3:p.A55_A57del0

hg38:chr9:127843142 GGCCTGA>G

Associated Papers

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C et al.

Journal of Human Genetics, 2007

17786384 (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."