KMT2D c.11094dup ;(p.F3699Lfs*14)

Variant ID: 12-49427393-A-AG

NM_003482.3(KMT2D):c.11094dup;(p.F3699Lfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Circulation
Krane, Markus M; Dreßen, Martina M; Santamaria, Gianluca G; My, Ilaria I; Schneider, Christine M CM; Dorn, Tatjana T; Laue, Svenja S; Mastantuono, Elisa E; Berutti, Riccardo R; Rawat, Hilansi H; Gilsbach, Ralf R; Schneider, Pedro P; Lahm, Harald H; Schwarz, Sascha S; Doppler, Stefanie A SA; Paige, Sharon S; Puluca, Nazan N; Doll, Sophia S; Neb, Irina I; Brade, Thomas T; Zhang, Zhong Z; Abou-Ajram, Claudia C; Northoff, Bernd B; Holdt, Lesca M LM; Sudhop, Stefanie S; Sahara, Makoto M; Goedel, Alexander A; Dendorfer, Andreas A; Tjong, Fleur V Y FVY; Rijlaarsdam, Maria E ME; Cleuziou, Julie J; Lang, Nora N; Kupatt, Christian C; Bezzina, Connie C; Lange, Rüdiger R; Bowles, Neil E NE; Mann, Matthias M; Gelb, Bruce D BD; Crotti, Lia L; Hein, Lutz L; Meitinger, Thomas T; Wu, Sean S; Sinnecker, Daniel D; Gruber, Peter J PJ; Laugwitz, Karl-Ludwig KL; Moretti, Alessandra A
Publication Date: 2021-10-26

Variant appearance in text: KMT2D: Phe3699Leufs*14
PubMed Link: 34694888
Variant Present in the following documents:
  • cir-144-1409-s001.xlsx, sheet 3
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