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DMD c.1235del ;(p.L412Yfs*13)
Variant ID: X-32662344-TA-T
NM_004006.2(
DMD
):c.1235del;(p.L412Yfs*13)
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:
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
Journal Of Neuropathology And Experimental Neurology
Torelli, Silvia S; Scaglioni, Domenic D; Sardone, Valentina V; Ellis, Matthew J MJ; Domingos, Joana J; Jones, Adam A; Feng, Lucy L; Chambers, Darren D; Eastwood, Deborah M DM; Leturcq, France F; Yaou, Rabah Ben RB; Urtizberea, Andoni A; Sabouraud, Pascal P; Barnerias, Christine C; Stojkovic, Tanya T; Ricci, Enzo E; Beuvin, Maud M; Bonne, Gisele G; Sewry, Caroline A CA; Willis, Tracey T; Kulshrestha, Richa R; Tasca, Giorgio G; Phadke, Rahul R; Morgan, Jennifer E JE; Muntoni, Francesco F
Publication Date: 2021-10-26
Variant appearance in text: DMD: 1235delT; Leu412Tyrfs*13
PubMed Link:
34498054
Variant Present in the following documents:
Main text
nlab088.pdf
View BVdb publication page