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DMD c.668C>A ;(p.P223Q)
Variant ID: X-32717392-G-T
NM_004006.2(
DMD
):c.668C>A;(p.P223Q)
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:
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: P223Q
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Plos One
Córdoba, Marta M; Rodriguez-Quiroga, Sergio Alejandro SA; Vega, Patricia Analía PA; Salinas, Valeria V; Perez-Maturo, Josefina J; Amartino, Hernán H; Vásquez-Dusefante, Cecilia C; Medina, Nancy N; González-Morón, Dolores D; Kauffman, Marcelo Andrés MA
Publication Date: 2018
Variant appearance in text: DMD: 668C>A
PubMed Link:
29389947
Variant Present in the following documents:
Main text
pone.0191228.pdf
View BVdb publication page