Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.M391K
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EDAR

NM_022336.4:p.M391K

Associated Papers

A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2021

Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.

Zhang L et al.

Human Mutation, 2020

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Arte S et al.

Plos One, 2013

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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."