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DMD c.5341A>T ;(p.K1781*)
Variant ID: X-32366630-T-A
NM_004006.2(
DMD
):c.5341A>T;(p.K1781*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Neurology. Genetics
Selvatici, Rita R; Rossi, Rachele R; Fortunato, Fernanda F; Trabanelli, Cecilia C; Sifi, Yamina Y; Margutti, Alice A; Neri, Marcella M; Gualandi, Francesca F; Szabò, Lena L; Fekete, Balint B; Angelova, Lyudmilla L; Litvinenko, Ivan I; Ivanov, Ivan I; Vildan, Yurtsever Y; Iuhas, Oana Alexandra OA; Vintan, Mihaela M; Burloiu, Carmen C; Lacramioara, Butnariu B; Visa, Gabriela G; Epure, Diana D; Rusu, Cristina C; Vasile, Daniela D; Sandu, Magdalena M; Vlodavets, Dmitry D; Mager, Monica M; Kyriakides, Theodore T; Delin, Sanja S; Lehman, Ivan I; Fureš, Jadranka Sekelj JS; Bojinova, Veneta V; Militaru, Mariela M; Guergueltcheva, Velina V; Burnyte, Birute B; Molnar, Maria Judith MJ; Butoianu, Niculina N; Bensemmane, Selma Dounia SD; Makri-Mokrane, Samira S; Herczegfalvi, Agnes A; Panzaru, Monica M; Emandi, Adela Chirita AC; Lusakowska, Anna A; Potulska-Chromik, Anna A; Kostera-Pruszczyk, Anna A; Shatillo, Andriy A; Khelladi, Djawed Bouchenak DB; Dendane, Oussama O; Fang, Mingyan M; Lu, Zhiyuan Z; Ferlini, Alessandra A
Publication Date: 2021-02
Variant appearance in text: DMD: 5341A>T; Lys1781*
PubMed Link:
33376799
Variant Present in the following documents:
NG2020014407.pdf
View BVdb publication page