Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.I187I
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EDNRB

NM_001122659.3:p.I187I

Associated Papers

Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).

Moore SW

Pediatric Surgery International, 2018

A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis.

Salinas-Torres VM et al.

Pediatric Surgery International, 2018

Associations of anorectal malformations and related syndromes.

Moore SW

Pediatric Surgery International, 2013

Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Moore SW

Pediatric Surgery International, 2012

A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients.

Sánchez-Mejías A et al.

Experimental and Therapeutic Medicine, 2010

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

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

Moore SW et al.

Journal of Pediatric Surgery, 2007

The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Moore SW

Pediatric Surgery International, 2006

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

Congenital anomalies.

Stark RB

Review of Surgery, 0

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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."