We replicated the enrichment of rare LoF variants in the previously implicated set of 2,456 genes 11 in our UK and Finnish schizophrenia data sets (P = 7 × 10 −4; Online Methods).Having ...

Figure 1: Probe orientation, spectral overlap and color compensation for multicolor Nras mutation detection. Serial dilutions were performed using DNA extracted from Nras mutation-bearing cell ...

Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, SE-17165 Stockholm, Sweden Division of Clinical Microbiology, Karolinska University Hospital, Solna, Stockholm SE-17176, ...

Radiotherapy and Nuclear Medicine Equipment Shortages in Vietnam: A Critical Gap in Cancer Care We conducted whole-exome sequencing on 100 (N = 100) tumor-normal paired and orphan tumor samples of PTC ...

Analysis of genomic DNA showed a point mutation in the splice donor site of intron 30 consisting of a guanine to thymine transversion at position +1 (IVS30+1G>T). The skipping of exon 30 does not ...

In summary, our results show that single amino‐acid changes in DksA can increase DksA function in vivo, thereby bypassing the requirement for ppGpp. Apparent binding affinities of the wild‐type and ...

Niemann-Pick disease type C (NPC) disease is a lysosomal storage disorder caused by alterations in the trafficking of unesterified cholesterol due to mutations in the NPC1 and NPC2 genes. Its ...