TTN c.33938dup ;(p.E11314Rfs*24)

Variant ID: 2-179542907-T-TG

NM_001267550.1(TTN):c.33938dup;(p.E11314Rfs*24)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Orphanet Journal Of Rare Diseases
Wang, Liang L; Zhang, Victor Wei VW; Li, Shaoyuan S; Li, Huan H; Sun, Yiming Y; Li, Jing J; Zhu, Yuling Y; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C
Publication Date: 2018-08-14

Variant appearance in text: TTN: 33938dupC; E11314Rfs*24
PubMed Link: 30107846
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_859.pdf
View BVdb publication page