Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.H314delFs
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EDNRB

NM_001122659.3:p.H314delFs

Associated Papers

Genetics of Waardenburg Syndrome in Africa: A Systematic Review.

Aboagye ET et al.

International Journal of Molecular Sciences, 2025

41516007 (PubMed )
Supplement: ijms-27-00127-s001.zip › Table__S.1-3._and_5.xlsx › Table_S5

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

Trabelsi M et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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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."