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DMD c.7657_7659del ;(p.R2553del)
Variant ID: X-31747749-TTCG-T
NM_004006.2(
DMD
):c.7657_7659del;(p.R2553del)
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:
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
Bmc Medical Genetics
Deepha, Sekar S; Vengalil, Seena S; Preethish-Kumar, Veeramani V; Polavarapu, Kiran K; Nalini, Atchayaram A; Gayathri, Narayanappa N; Purushottam, Meera M
Publication Date: 2017-06-13
Variant appearance in text: DMD: R2553del
PubMed Link:
28610567
Variant Present in the following documents:
Main text
12881_2017_Article_431.pdf
View BVdb publication page