TTN c.97427dup ;(p.T32477Nfs*13)

Variant ID: 2-179407055-T-TG

NM_001267550.1(TTN):c.97427dup;(p.T32477Nfs*13)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.

Molecular Genetics & Genomic Medicine
Verdonschot, Job A J JAJ; Robinson, Emma L EL; James, Kiely N KN; Mohamed, Mohamed W MW; Claes, Godelieve R F GRF; Casas, Kari K; Vanhoutte, Els K EK; Hazebroek, Mark R MR; Kringlen, Gabriel G; Pasierb, Michele M MM; van den Wijngaard, Arthur A; Glatz, Jan F C JFC; Heymans, Stephane R B SRB; Krapels, Ingrid P C IPC; Nahas, Shareef S; Brunner, Han G HG; Szklarczyk, Radek R
Publication Date: 2020-02

Variant appearance in text: TTN: 97427dup; Thr32477Asnfs
PubMed Link: 31880413
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1049.pdf
View BVdb publication page