Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.L110F
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EDNRB

NM_001122659.3:p.L110F

Associated Papers

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

Yang S et al.

Molecular Genetics & Genomic Medicine, 2020

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Li W et al.

Neural Plasticity, 2019

[Clinical and genetic investigation of families with Waardenburg syndrome type 2].

Chen HS et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2016

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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."