This study reports two unrelated patients with a combined immunodeficiency. Whole-exome sequencing of both patients, their healthy parents and siblings identified a single de novo missense variant in
The table contains characteristics of the mutation such as distance from closest structural domain, the z-score, the change it causes to the MFE and its association with a disease or phenotype. (TSV)
We sorted approx. 10000 neurons per sample from day one adult worms. We collected two wildtype samples and three thoc-5(wy822) mutant samples. Overall design: RNAseq of FACS-sorted C.elegans neurons f
Series of 6 repetitions of hybridization of treatment (mak3) and control (WT) each. Comparison of Arabidopsis mak3 mutant defective in cytoplasmic N-acetyltransferase versus WT. P. Pesaresi et al., Pl
