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EHBP1 c.1082_1083delinsAT ;(p.R361H)
Variant ID: 2-63101564-GA-AT
NM_001142616.1(
EHBP1
):c.1082_1083delinsAT;(p.R361H)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic analysis of the intersection of disease mutations with protein modifications.
Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25
Variant appearance in text: EHBP1: R361H
PubMed Link:
31345222
Variant Present in the following documents:
12920_2019_543_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page