Screenshot of Figure 1: Geno- and phenotypic spectrum of the HPDL-related neurological syndrome. A. Disease-associated variants identified in the cohort, annotated along the protein primary structure. Protein-truncating variants are depicted toward the top and nontruncating variants downward.

Quantitative unbiased natural history modeling of HPDL-related disease identifies three distinct phenotypes bit.ly/4b9xODW #NeuroGenetics #SPG83 #GenotypePhenotype

Postdoc — Center for the Multiplex Assessment of Phenotype

#PostDoc #ScienceJobs #ResearchOpportunity #MutationalScanning, #MolecularBiology, #Proteomics #TechDev #GenotypePhenotype #PostdoctoralCandidate #Hiring @CEGS-CMAP

📍 Location: Seattle, WA

Link: www.cmap.gs.washington.edu/postdoc

Starting momentarily! 9am Pacific varianteffect.org/seminar-series
#GenotypePhenotype #SequenceFunction #FunctionalGenomics #Seminar