Bi-allelic loss-of-function variants in ppfibp1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

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• who: Erik Rosenhahn from the InstitutUniversity of e of Biochemistry, Friedrich-Alexander-Universitau0308t Erlangen-Nuu0308rnberg, Erlangen, Germany have published the research: Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications, in the Journal: Neurology Growth
• how: For the identification of hydrophobic_interactions the authors used a 3.9 Au030a distance cutoff for as specified in Wallace et_al 1995.29 Structural analysis for the other variants was not necessary because all are LoF variants and predicted to lead to a loss of protein. Given the role of aberrant . . .
  

   

  

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