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Detection of mosaic variants using genome sequencing in a large pediatric cohort

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63062Source: DataRank Database

Detection of mosaic variants using genome sequencing in a large pediatric cohort is a research paper published in American Journal of Medical Genetics Part A (2022). On theSindex it has a DataRank of 0. It has been cited 14 times.

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Open Access14 citations

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Enrichment:Funding (2 grants)Topics (31)IDs (PubMed, PMC)Annotations (1)

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Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (26)

Katie M. Gallagher ORCID,Atteeq U. Rehman ORCID,Priya Marathe,Katherine E. Bonini ORCID,Monisha Sebastin ORCID

Live enrichment

PubMed:36563179 PMC:PMC10266700

National Institutes of Health

Grant: U01HG009610

National Human Genome Research Institute

Fields of Study

HumansAllelesSpasms, InfantilePhenotypeMosaicismHigh-Throughput Nucleotide SequencingProteinsPeptide Elongation Factor 1GTPase-Activating ProteinsPotassium Channels, Sodium-ActivatedNerve Tissue ProteinsIntracellular Signaling Peptides and ProteinsIntrinsically Disordered Proteins

MeSH Terms

HumansSpasms, InfantilePeptide Elongation Factor 1Intracellular Signaling Peptides and ProteinsGTPase-Activating ProteinsProteinsNerve Tissue ProteinsPhenotypeMosaicismAllelesHigh-Throughput Nucleotide SequencingIntrinsically Disordered ProteinsPotassium Channels, Sodium-Activated

Keywords

Genome sequencingMosaicismGenomic MedicineWhole Genome SequencingPediatric Genetics

Detection of mosaic variants using genome sequencing in a large pediatric cohort

FAIR Checklist

Authors (26)

Funding (2 grants)

Topics

Annotations (Europe PMC)