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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENG

Variant:p.C53_V54delFs

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ENG

NM_001114753.3:p.C53_V54delFs

hg38:chr9:127843151 CACGCA>C

Associated Papers

Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Ustaszewski A et al.

Archives of Medical Science : Ams, 2021

34336026 (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."