Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.P285L
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EDNRB

NM_001122659.3:p.P285L

Associated Papers

Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line.

Chen B et al.

Experimental Animals, 2016

Molecular characterization of four induced alleles at the Ednrb locus.

Shin MK et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."