EDA2R c.334C>G ;(p.P112A)

Variant ID: X-65824281-G-C

NM_021783.3(EDA2R):c.334C>G;(p.P112A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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

Cns Neuroscience & Therapeutics
Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J
Publication Date: 2020-11

Variant appearance in text: rs12837393
PubMed Link: 32951330
Variant Present in the following documents:
  • Main text
  • CNS-26-1178.pdf
View BVdb publication page



Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Human Molecular Genetics
Carss, Keren J KJ; Hillman, Sarah C SC; Parthiban, Vijaya V; McMullan, Dominic J DJ; Maher, Eamonn R ER; Kilby, Mark D MD; Hurles, Matthew E ME
Publication Date: 2014-06-15

Variant appearance in text: rs12837393
PubMed Link: 24476948
Variant Present in the following documents:
  • supp_ddu038_ddu038supp.pdf
View BVdb publication page