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.




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