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NLRP4 c.2123G>C ;(p.R708P)
Variant ID: 19-56373462-G-C
NM_134444.4(
NLRP4
):c.2123G>C;(p.R708P)
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:
Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.
International Journal Of Molecular Sciences
Cacabelos, Ramon R
Publication Date: 2020-04-26
Variant appearance in text: rs12462372
PubMed Link:
32357528
Variant Present in the following documents:
Main text
ijms-21-03059.pdf
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs12462372
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page