Varaico: Literature-Extracted Genetic Variants

Gene:EDA2R
Variant:p.R57K
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EDA2R

NM_021783.5:p.R57K

Associated Papers

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Ectodysplasin Signaling through XEDAR Is Required for Mammary Gland Morphogenesis.

Wark AR et al.

The Journal of Investigative Dermatology, 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Whole-exome sequencing reveals novel candidate single nucleotide variations for preventing adverse effects of levonorgestrel implantation.

Zhu W et al.

Pharmacogenomics, 2021

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Torre-Fuentes L et al.

Cns Neuroscience & Therapeutics, 2020

32951330 (PubMed )
Supplement: CNS-26-1178-s002.xlsx › Hoja1

Response from Original Authors - RE: Six novel rare nonsynonymous mutations for migraine without aura identified by exome sequencing.

Wang XP et al.

Journal of Neurogenetics, 2017

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

Wohlfart S et al.

Journal of Human Genetics, 2016

Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing.

Jiang Y et al.

Journal of Neurogenetics, 2015

Inter-chromosomal variation in the pattern of human population genetic structure.

Baye TM

Human Genomics, 2011

Genomic and geographic distribution of private SNPs and pathways in human populations.

Baye TM et al.

Personalized Medicine, 2009

Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness.

Hillmer AM et al.

Human Genetics, 2009

Genome-wide detection and characterization of positive selection in human populations.

Sabeti PC et al.

Nature, 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."