Frontiers12d
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies
The Annovar software was used to filter and annotate the variant. All nonsense, frameshift, and canonical splice site variants were considered to be deleterious. The pathogenic potential of missense ...
Stereogum24d
Gilla Band’s Alan Duggan Borges Announces The Null Club’s Debut EP Feat. Elucid, Faris Badwan (The Horrors), & Valentine Caufield (Mandy, Indiana)
01 “Frameshift” (Feat. ELUCID) 02 “14 Hours” (Feat. Faris Badwan of the Horrors) 03 “Slip Angle” (Feat. Valentine Caulfield of Mandy, Indiana) TOUR DATES: 05/02 – Dublin, IE @ The ...
GitHub2d
Bakta: rapid & standardized annotation of bacterial genomes, MAGs & plasmids
Comprehensive & taxonomy-independent database Bakta provides a large and taxonomy-independent database using UniProt's entire UniRef protein sequence cluster universe. Thus, it achieves favourable ...
BMJ12d
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction
Correspondence to Dr Frederik J Steyn, Centre for Clinical Research, The University of Queensland, Brisbane, QLD 4072, Australia; f.steyn{at}uq.edu.au This male patient was first seen at age 62 years ...