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UnknownSpecifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Not available
S-EPMC6188664 | biostudies-literature
MetabolomicsMaternal regulation of biliary disease in neonates via gut microbial metabolites

Maternal seeding of the microbiome in neonates promotes a long-lasting biological footprint, but how it impacts disease susceptibility in early life remains unknown. We hypothesized that feeding butyrate to pregnant mice influences the newborn’s susceptibility to biliary atresia, a severe cholang...

2022-01-11 | MTBLS2171 | MetaboLights
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
ProteomicsNCI60 proteome by PCT-SWATH - Quantitative Proteome Landscape of the NCI-60 Cancer Cell Lines
We obtained quantitative analysis of the NCI-60 cell panels using pressure cycling technology (PCT) and SWATH-MS. Each cell was analyzed in duplicate. The data were analyzed using a cell line SWATH assay library and OpenSWATH, followed by SWATH-expert refinement.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-07-29 | MSV000085848 | MassIVE
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
UnknownComprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
Not available
S-EPMC4775252 | biostudies-literature
UnknownA second update on mapping the human genetic architecture of COVID-19.
Not available
S-EPMC10482689 | biostudies-literature
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