DMD c.471C>A ;(p.I157=)

Variant ID: X-32834644-G-T

NM_004006.2(DMD):c.471C>A;(p.I157=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Nucleus (Austin, Tex.)
Bernasconi, Pia P; Carboni, Nicola N; Ricci, Giulia G; Siciliano, Gabriele G; Politano, Luisa L; Maggi, Lorenzo L; Mongini, Tiziana T; Vercelli, Liliana L; Rodolico, Carmelo C; Biagini, Elena E; Boriani, Giuseppe G; Ruggiero, Lucia L; Santoro, Lucio L; Schena, Elisa E; Prencipe, Sabino S; Evangelisti, Camilla C; Pegoraro, Elena E; Morandi, Lucia L; Columbaro, Marta M; Lanzuolo, Chiara C; Sabatelli, Patrizia P; Cavalcante, Paola P; Cappelletti, Cristina C; Bonne, Gisèle G; Muchir, Antoine A; Lattanzi, Giovanna G
Publication Date: 2018-01-01

Variant appearance in text: DMD: 471C>A
PubMed Link: 29693488
Variant Present in the following documents:
  • Main text
  • kncl-09-01-1467722.pdf
View BVdb publication page