Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.80C>T ;(p.A27V)
Variant ID: X-33038269-G-A
NM_004006.2(
DMD
):c.80C>T;(p.A27V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: DMD: A27V
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
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: 80C>T
PubMed Link:
29693488
Variant Present in the following documents:
Main text
kncl-09-01-1467722.pdf
View BVdb publication page
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Investigative Ophthalmology & Visual Science
Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A
Publication Date: 2016-11-01
Variant appearance in text: DMD: A27V
PubMed Link:
27898983
Variant Present in the following documents:
iovs-57-14-17_s03.xlsx, sheet 1
View BVdb publication page