Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.S380R
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EDAR

NM_022336.4:p.S380R

Associated Papers

Critical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia.

Kim YJ et al.

Journal of Clinical Medicine, 2024

Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing.

Lee S et al.

Frontiers in Genetics, 2023

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Lee Y et al.

Journal of Personalized Medicine, 2022

Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.

Riddell J et al.

European Journal of Human Genetics : Ejhg, 2020

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

Zhang L et al.

Human Mutation, 2020

Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing.

Yamaguchi T et al.

Human Genome Variation, 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."