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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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