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Yutaka Furuta1, Rory J Tinker1, Alican Gulsevin2,3

  • 1Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

概括

钻石-黑粉丝贫血 (DBA) 通常是由单基因变异引起的. 这项研究发现了一种罕见的DBA病例,由RPS19和RPL27变异的二基遗传引起,并通过机器学习证实了这一点.