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DMD c.4049_4050delinsAA ;(p.R1350Q)
Variant ID: X-32456379-AC-TT
NM_004006.2(
DMD
):c.4049_4050delinsAA;(p.R1350Q)
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:
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Biomedicines
Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA
Publication Date: 2020-09-05
Variant appearance in text: DMD: Arg1350Gln
PubMed Link:
32899500
Variant Present in the following documents:
Main text
biomedicines-08-00332.pdf
View BVdb publication page