TTN c.38661_38665del ;(p.K12887Nfs*6)

Variant ID: 2-179518195-GTTTTC-G

NM_001267550.1(TTN):c.38661_38665del;(p.K12887Nfs*6)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Journal Of Clinical Medicine
Barbosa-Gouveia, Sofia S; Vázquez-Mosquera, Maria Eugenia ME; González-Vioque, Emiliano E; Hermida-Ameijeiras, Álvaro Á; Sánchez-Pintos, Paula P; de Castro, Maria José MJ; León, Soraya Ramiro SR; Gil-Fournier, Belén B; Domínguez-González, Cristina C; Camacho Salas, Ana A; Negrão, Luis L; Fineza, Isabel I; Laranjeira, Francisco F; Couce, Maria Luz ML
Publication Date: 2022-05-12

Variant appearance in text: TTN: 38661_38665del
PubMed Link: 35628876
Variant Present in the following documents:
  • Main text
  • jcm-11-02750.pdf
View BVdb publication page