MYH7 c.3367G>C ;(p.E1123Q)

Variant ID: 14-23889413-C-G

NM_000257.2(MYH7):c.3367G>C;(p.E1123Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Glu1123Gln
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page



Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.

Cells
Dorsch, Larissa M LM; Schuldt, Maike M; dos Remedios, Cristobal G CG; Schinkel, Arend F L AFL; de Jong, Peter L PL; Michels, Michelle M; Kuster, Diederik W D DWD; Brundel, Bianca J J M BJJM; van der Velden, Jolanda J
Publication Date: 2019-07-18

Variant appearance in text: MYH7: Glu1123Gln
PubMed Link: 31323898
Variant Present in the following documents:
  • Main text
  • cells-08-00741.pdf
View BVdb publication page



A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences
Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L
Publication Date: 2016-07-30

Variant appearance in text: MYH7: 3367G>C; Glu1123Gln
PubMed Link: 27483260
Variant Present in the following documents:
  • Main text
  • ijms-17-01239.pdf
View BVdb publication page