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The ERBB2 C.1795c>t, P.arg599cys Variant is Associated with Left Ventricular Outflow Tract Obstruction Defects in Humans

Minna Ampuja, Sabina Ericsson,Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman,Martin Broberg, Amanda Ramste, Diego Balboa,Tiina Ojala,Jessica X Chong, Michael J Bamshad,James R Priest,Markku Varjosalo,Riikka Kivelä,Emmi Helle

HGG advances（2025）

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Key words
congenital heart defect,ERBB2,hypoplastic left heart syndrome,human induced pluripotent stem cells,zebrafish,single-cell RNA sequencing
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