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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EDN1

Variant:p.D60N

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EDN1

NM_001955.5:p.D60N

hg38:chr6:12292454 G>A

Associated Papers

Association of endothelin-beta receptor (EDNRB) gene variants in anorectal malformations.

Moore SW et al.

Journal of Pediatric Surgery, 2007

17618893 (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."