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DMD c.8668+1G>A
Variant ID: X-31497099-C-T
NM_004006.2(
DMD
):c.8668+1G>A
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 8668+1G>A
PubMed Link:
32194622
Variant Present in the following documents:
View BVdb publication page
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01
Variant appearance in text: DMD: 8668+1G>A
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page