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81
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
منشور في 2023"…Sanger sequencing verified the segregation of the two recessive gene variants with the phenotype in family members. The prediction algorithms support the pathogenicity of these variants. …"
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82
THE FUTURE OF MEDICINE, healthcare innovation through precision medicine: policy case study of Qatar
منشور في 2020"…Consequently, the big data revolution has provided an opportunity to apply artificial intelligence and machine learning algorithms to mine such a vast data set. …"