TG c.3214dup ;(p.Q1072Pfs*22)

Variant ID: 8-133910487-A-AC

NM_003235.4(TG):c.3214dup;(p.Q1072Pfs*22)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.

Frontiers In Pediatrics
Ying, Shen S; Zhihua, Zhang Z; Yucan, Zheng Z; Yu, Jin J; Qian, Lin L; Bixia, Zheng Z; Weixia, Cheng C; Zhifeng, Liu L
Publication Date: 2020

Variant appearance in text: TG: 3214_3215insC
PubMed Link: 33344388
Variant Present in the following documents:
  • Main text
  • fped-08-600446.pdf
View BVdb publication page