Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.A310T
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EDNRB

NM_001122659.3:p.A310T

Associated Papers

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3

Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.

Jabeen R et al.

Molecular Biology Reports, 2012

Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.

Lin YC et al.

Journal of Pediatric Gastroenterology and Nutrition, 2008

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.

Sakai T et al.

European Journal of Pediatrics, 2000

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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."