Case report: heterozygous germline variant in eif6 additional to biallelic sbds pathogenic variants in a patient with ribosomopathy shwachman – diamond syndrome

HIGHLIGHTS

• who: Shwachman-Diamond syndrome et al. from the Sant`Orsola-Malpighi Polyclinic, Italy Fudan University, China have published the article: Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman - Diamond Syndrome, in the Journal: (JOURNAL)
• what: This model had originally been generated by SWISS-MODEL (Waterhouse et_al, 2018) and docked into the electron_density of human pre-60S ribosomal particles by rigid-body fitting, followed by extensive manual rebuilding in COOT with a final local resolution comprised between 3.1 and 4.8 u00c5 (Liang et_al . . .
  

   

  

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