DMD c.186+2T>C

Variant ID: X-32867843-A-G

NM_004006.2(DMD):c.186+2T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Frontiers In Genetics
Neri, Marcella M; Rossi, Rachele R; Trabanelli, Cecilia C; Mauro, Antonio A; Selvatici, Rita R; Falzarano, Maria Sofia MS; Spedicato, Noemi N; Margutti, Alice A; Rimessi, Paola P; Fortunato, Fernanda F; Fabris, Marina M; Gualandi, Francesca F; Comi, Giacomo G; Tedeschi, Silvana S; Seia, Manuela M; Fiorillo, Chiara C; Traverso, Monica M; Bruno, Claudio C; Giardina, Emiliano E; Piemontese, Maria Rosaria MR; Merla, Giuseppe G; Cau, Milena M; Marica, Monica M; Scuderi, Carmela C; Borgione, Eugenia E; Tessa, Alessandra A; Astrea, Guia G; Santorelli, Filippo Maria FM; Merlini, Luciano L; Mora, Marina M; Bernasconi, Pia P; Gibertini, Sara S; Sansone, Valeria V; Mongini, Tiziana T; Berardinelli, Angela A; Pini, Antonella A; Liguori, Rocco R; Filosto, Massimiliano M; Messina, Sonia S; Vita, Gianluca G; Toscano, Antonio A; Vita, Giuseppe G; Pane, Marika M; Servidei, Serenella S; Pegoraro, Elena E; Bello, Luca L; Travaglini, Lorena L; Bertini, Enrico E; D'Amico, Adele A; Ergoli, Manuela M; Politano, Luisa L; Torella, Annalaura A; Nigro, Vincenzo V; Mercuri, Eugenio E; Ferlini, Alessandra A
Publication Date: 2020

Variant appearance in text: DMD: 186+2T>C
PubMed Link: 32194622
Variant Present in the following documents:
View BVdb publication page



Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019

Variant appearance in text: DMD: 186+2T>C
PubMed Link: 30833962
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
  • fgene-10-00114.pdf
View BVdb publication page



Identification of Cardiomyopathy-Associated Circulating miRNA Biomarkers in Muscular Dystrophy Female Carriers Using a Complementary Cardiac Imaging and Plasma Profiling Approach.

Frontiers In Physiology
Florian, Anca A; Patrascu, Alexandru A; Tremmel, Roman R; Rösch, Sabine S; Sechtem, Udo U; Schwab, Matthias M; Schaeffeler, Elke E; Yilmaz, Ali A
Publication Date: 2018

Variant appearance in text: DMD: 186+2T>C
PubMed Link: 30622476
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page