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The data set repersents a fair comparison of shotgun proteomics with HRM (swath type DIA). Additionally, a human liver microtissue was profiled with HRM.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-12-19 | MSV000081828 | MassIVE
In an 8-year-old girl of consanguineous Turkish parents, who developed ataxic gait and polyneuropathy at the age of 3 years, we identified a biallelic missense variant c.424C>T, p.R142W in Glypican 1 (GPC1) by using whole genome sequencing. Up to date, GPC1 has not been associated with a neuromuscul...
ORGANISM(S): Homo sapiens (Human) 
2023-08-15 | PXD040023 | Pride
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