Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.R133*
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EDNRB

NM_001122659.3:p.R133*

Associated Papers

Genomic profile of appendiceal goblet cell carcinoid is distinct compared to appendiceal neuroendocrine tumor and conventional adenocarcinoma.

Wen KW et al.

Human Pathology, 2018

A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis.

Granström AL et al.

Journal of Pediatric Surgery, 2014

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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."