TTN c.102057del ;(p.N34020Tfs*9)

Variant ID: 2-179399285-TA-T

NM_001267550.1(TTN):c.102057del;(p.N34020Tfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases
Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P
Publication Date: 2016-08-30

Variant appearance in text: TTN: 102057delT
PubMed Link: 27854229
Variant Present in the following documents:
  • Main text
  • jnd-3-jnd160158.pdf
View BVdb publication page