Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.R319P
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EDNRB

NM_001122659.3:p.R319P

Associated Papers

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

A French CDK4-positive melanoma family with a co-inherited EDNRB mutation.

Soufir N et al.

Journal of Dermatological Science, 2007

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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."