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106
datasets available to search
ShareScore release 0.9.0
Dataset results
106 results for “pathogenic variant”
Phenotypes Associated With Constitutional EGFR Pathogenic Variants
ClinicalTrials.gov study NCT06562491. IPD Sharing: YES. Countries: 0. Publications: 0.
Role of IL-37 Genetic Variants in Modulating Innate Immune Response to Periodontal Pathogens
ClinicalTrials.gov study NCT03161301. IPD Sharing: NO. Countries: 1. Publications: 0.
Multicenter Study on the Pathogenic Germline Gene Variants of Colorectal Polyposis in China
ClinicalTrials.gov study NCT04961125. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Phenotype and Prognosis of Patients With Breast Cancer and Pathogenic Variants of TP53
ClinicalTrials.gov study NCT04966923. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
ClinicalTrials.gov study NCT03810859. IPD Sharing: NO. Countries: 1. Publications: 0.
Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
ClinicalTrials.gov study NCT06807723. IPD Sharing: YES. Countries: 1. Publications: 0.
Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant
ClinicalTrials.gov study NCT07050160. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Renal and Vascular Phenotypic Characterization of Patients With Enamel Renal Syndrome Due to a Pathogenic Variant of the FAM20A Gene and Pathophysiological Study of Ectopic Calcifications
ClinicalTrials.gov study NCT07285421. IPD Sharing: YES. Countries: 1. Publications: 0.
Universal- Versus Guidelines-Directed Genetic Testing for Germline Pathogenic Variants Utilizing a Multi-Gene Panel for Inherited Cancers in Non-Western Society.
ClinicalTrials.gov study NCT04920513. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Detection of Germline and Somatic Pathogenic Variants in Patients With de Novo Metastatic Breast Cancer
ClinicalTrials.gov study NCT05758948. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Universal Genetic Testing Versus Guidelines-Directed Testing for Germline Pathogenic Variants Among Non-Western Patients With Breast Cancer
ClinicalTrials.gov study NCT04920656. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Gene Therapy for ACM Due to a PKP2 Pathogenic Variant
ClinicalTrials.gov study NCT06109181. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
ClinicalTrials.gov study NCT06563895. IPD Sharing: Not stated. Countries: 23. Publications: 0.
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants
GEO Series GSE138130. Homo sapiens; synthetic construct. 20 samples. Type: Other.
Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants
GEO Series GSE300865. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic variants in the splicing factor SF1 lead to a new neurodevelopmental disorder.
GEO Series GSE288121. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
SARS-CoV-2 spike P681R mutation, a hallmark of the Delta variant, enhances viral fusogenicity and pathogenicity
GEO Series GSE182738. Severe acute respiratory syndrome coronavirus 2. 6 samples. Type: Genome variation profiling by high throughput sequencing.
RNA-seq on cells with or without pathogenic PAX1 variants at different stages of in vitro differentiation into thymic epithelial progenitor cells
GEO Series GSE138784. Homo sapiens. 27 samples. Type: Expression profiling by high throughput sequencing.
Transcriptomic analyses of cardiomyopathy development in mice carrying the phospholamban p.(Arg14del) pathogenic variant, and comparison with ischemic heart disease
GEO Series GSE168610. Mus musculus. 39 samples. Type: Expression profiling by high throughput sequencing.
Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus
GEO Series GSE72617. Homo sapiens. 8 samples. Type: Genome variation profiling by genome tiling array.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.