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Paper Details

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Hum Mutat
47
2017
A, C, EIF2S3, EIF2S3 gene, ISR, Ile465Serfs, MEHMO, MEHMO syndrome, X-Linked Intellectual Disability Syndrome, X-linked syndrome, c.324T, eIF2, epilepsy, eukaryotic translation initiation factor 2, fibroblasts, hypogenitalism, hypogonadism, intellectual disability, microcephaly, obesity, patient, yeast
Author NameAffiliation
Clesson TurnerWalter Reed National Military Medical Center
Ute FischerMax Planck Institute for Molecular Genetics
Melanie BahloThe Walter and Eliza Hall Institute of Medical Research
Melanie BahloUniversity of Melbourne
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Release 1.2