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    Kortbawi, H., Ames, E., Pritchard, A., Devine, P., van Ziffle, J., & Slavotinek, A. (2022). further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. American journal of medical genetics, 188(8), 2479–2484. http://access.bl.uk/ark:/81055/vdc_100159485992.0x00001e
  
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