TG c.5179del ;(p.A1727Hfs*26)

Variant ID: 8-133953733-TG-T

NM_003235.4(TG):c.5179del;(p.A1727Hfs*26)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.

Frontiers In Endocrinology
Rodrigues, Tania Maria Barreto TMB; Silva, Marlon Messias da Conceição MMDC; Freitas, Magali Maciel MM; Duarte, Zélia Maria Costa ZMC; Frutuoso, Vitória Sousa VS; Rodrigues, Mariana Teixeira MT; Rubio, Ileana Gabriela Sanchez IGS
Publication Date: 2021

Variant appearance in text: TG: A1727Hfs*26
PubMed Link: 34220711
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page