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Genomicsena-DATASET-CRUK-LRI-05-08-2014-14:10:54:243-46 - samples
Van Hippel-Lindau syndrome multi-region exome sequencing of two patients
EGAD00001000973 | EGA
GenomicsVon Hippel-Lindau syndrome multi-region exome sequencing project from two patients undertaken at Cancer Research UK's London Research Institute
Multi-region whole exome sequencing of tumours from patients with Von Hippel-Lindau syndrome reveals convergence of mutayional events upon the PI3L-AKT-mTOR signalling pathway.
EGAS00001000907 | EGA
ProteomicsVariants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defects
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA binding protein that regulates a diverse array of biological processes, including recycling small nuclear ribonucleic acids (snRNAs) back to the spliceosome. Here we describe nine individuals from six independent families with...
ORGANISM(S): Homo sapiens (Human) 
2023-06-11 | PXD032816 | Pride
Gonadal dysgenesis 46 Neurodevelopmental disorder Spliceosome Xy dsd Sart3 Tip110 
UnknownPediatric vs Adult or Mixed Trauma Centers in Children Admitted to Hospitals Following Trauma: A Systematic Review and Meta-Analysis.
Not available
S-EPMC10507486 | biostudies-literature
UnknownBiallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Not available
S-EPMC6264644 | biostudies-literature
UnknownFive-Year Outcomes With Pembrolizumab Versus Chemotherapy for Metastatic Non-Small-Cell Lung Cancer With PD-L1 Tumor Proportion Score ≥ 50.
Not available
S-EPMC8280089 | biostudies-literature
UnknownVariants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Not available
S-EPMC10256788 | biostudies-literature
UnknownSpatio-temporal assessment of illicit drug use at large scale: evidence from 7 years of international wastewater monitoring.
Not available
S-EPMC6973045 | biostudies-literature
UnknownGlobal burden of respiratory infections associated with seasonal influenza in children under 5 years in 2018: a systematic review and modelling study.
Not available
S-EPMC7083228 | biostudies-literature
UnknownNatural History of Vanishing White Matter.
Not available
S-EPMC6175238 | biostudies-literature
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