DMD c.10304C>A ;(p.S3435*)

Variant ID: X-31191680-G-T

NM_004006.2(DMD):c.10304C>A;(p.S3435*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB
Publication Date: 2011-03

Variant appearance in text: DMD: 10304C>A
PubMed Link: 21972111
Variant Present in the following documents:
  • Main text
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