Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.C90R
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EDNRB

NM_001122659.3:p.C90R

Associated Papers

Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.

Lin PH et al.

Clinical and Experimental Otorhinolaryngology, 2025

A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.

Chen WC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006

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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."