Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.Q267_F268Splc
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EDNRB

NM_001122659.3:p.Q267_F268Splc

Associated Papers

Clinical and genetic correlations of familial Hirschsprung's disease.

Moore SW et al.

Journal of Pediatric Surgery, 2015

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome.

Zaahl MG et al.

Molecular and Cellular Probes, 2003

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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."