Lethal variants in humans: lessons learned from a large molecular autopsy cohort

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作者
Hanan E. Shamseldin
Lama AlAbdi
Sateesh Maddirevula
Hessa S. Alsaif
Fatema Alzahrani
Nour Ewida
Mais Hashem
Firdous Abdulwahab
Omar Abuyousef
Hiroyuki Kuwahara
Xin Gao
Fowzan S. Alkuraya
机构
[1] Department of Translational Genomics,Department of Zoology, College of Science
[2] Center for Genomic Medicine,Center of Excellence for Biomedicine
[3] King Faisal Specialist Hospital and Research Center,Computational Bioscience Research Center (CBRC)
[4] King Saud University,undefined
[5] King Abdulaziz City for Science and Technology,undefined
[6] King Abdullah University of Science and Technology (KAUST),undefined
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关键词
EHBP1L1; BMPR1A; MSN; FAAH2; Embryonic lethal; founder; loss of function; multi-locus;
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