DMD c.2353C>T ;(p.Q785*)

Variant ID: X-32519899-G-A

NM_004006.2(DMD):c.2353C>T;(p.Q785*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.

Pediatric Neurology
Connolly, Anne M AM; Florence, Julaine M JM; Cradock, Mary M MM; Eagle, Michelle M; Flanigan, Kevin M KM; McDonald, Craig M CM; Karachunski, Peter I PI; Darras, Basil T BT; Bushby, Kate K; Malkus, Elizabeth C EC; Golumbek, Paul T PT; Zaidman, Craig M CM; Miller, J Philip JP; Mendell, Jerry R JR; ,
Publication Date: 2014-06

Variant appearance in text: DMD: 2353C>T; Gln785X
PubMed Link: 24842254
Variant Present in the following documents:
  • Main text
View BVdb publication page



Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Neuromuscular Disorders : Nmd
Connolly, Anne M AM; Florence, Julaine M JM; Cradock, Mary M MM; Malkus, Elizabeth C EC; Schierbecker, Jeanine R JR; Siener, Catherine A CA; Wulf, Charlie O CO; Anand, Pallavi P; Golumbek, Paul T PT; Zaidman, Craig M CM; Philip Miller, J J; Lowes, Linda P LP; Alfano, Lindsay N LN; Viollet-Callendret, Laurence L; Flanigan, Kevin M KM; Mendell, Jerry R JR; McDonald, Craig M CM; Goude, Erica E; Johnson, Linda L; Nicorici, Alina A; Karachunski, Peter I PI; Day, John W JW; Dalton, Joline C JC; Farber, Janey M JM; Buser, Karen K KK; Darras, Basil T BT; Kang, Peter B PB; Riley, Susan O SO; Shriber, Elizabeth E; Parad, Rebecca R; Bushby, Kate K; Eagle, Michelle M; ,
Publication Date: 2013-07

Variant appearance in text: DMD: 2353C>T; Gln785X
PubMed Link: 23726376
Variant Present in the following documents:
  • Main text
View BVdb publication page