KDR c.3088G>A ;(p.A1030T)

Variant ID: 4-55956227-C-T

NM_002253.2(KDR):c.3088G>A;(p.A1030T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Reuter, Miriam S MS; Jobling, Rebekah R; Chaturvedi, Rajiv R RR; Manshaei, Roozbeh R; Costain, Gregory G; Heung, Tracy T; Curtis, Meredith M; Hosseini, S Mohsen SM; Liston, Eriskay E; Lowther, Chelsea C; Oechslin, Erwin E; Sticht, Heinrich H; Thiruvahindrapuram, Bhooma B; Mil, Spencer van SV; Wald, Rachel M RM; Walker, Susan S; Marshall, Christian R CR; Silversides, Candice K CK; Scherer, Stephen W SW; Kim, Raymond H RH; Bassett, Anne S AS
Publication Date: 2019-04

Variant appearance in text: KDR: 3088G>A
PubMed Link: 30232381
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_260.pdf
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