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TG c.1073_1074insC ;(p.A359Cfs*2)
Variant ID: 8-133895242-G-GC
NM_003235.4(
TG
):c.1073_1074insC;(p.A359Cfs*2)
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:
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.
Advances In Genomics And Genetics
Schussler, Edith E; Linkner, Rita V RV; Levitt, Jacob J; Mehta, Lakshmi L; Martignetti, John A JA; Oishi, Kimihiko K
Publication Date: 2018
Variant appearance in text: TG: 1073_1074insC
PubMed Link:
30050362
Variant Present in the following documents:
Main text
nihms-978245.pdf
View BVdb publication page