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Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63627Source: DataRank Database

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0. It has been cited 2 times.

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0DataRank · unranked

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Open Access2 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)OA: hybridTopics (31)IDs (PubMed)

FAIR Checklist

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Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (10)

Jennefer Carter,Luca Pannone ORCID,David A. Stevenson ORCID,Dorsa Moslehi,Serenella Venanzi

Live enrichment

PubMed:38613168

Common Fund

Grant: U01HG010218

NINDS NIH HHS

Grant: U01 NS134356

Associazione Italiana per la Ricerca sul Cancro, AIRC

Grant: IG 28768

NINDS NIH HHS

Grant: U01 NS134358

European Joint Programme on Rare Diseases, EJP-RD: NSEuroNet

Italian Ministry of Health

hybridLicense: cc-by

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63627

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63627

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.63627

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11223960/pdf/nihms-1983401.pdf

Fields of Study

HumansProto-Oncogene Proteins c-cblGerm-Line MutationMaleNoonan SyndromeAutism Spectrum DisorderGenetic Predisposition to DiseaseChild, PreschoolChildAnimalsPhenotypeCOS CellsThrombocytopenia

MeSH Terms

HumansProto-Oncogene Proteins c-cblGerm-Line MutationMaleNoonan SyndromeAutism Spectrum DisorderGenetic Predisposition to DiseaseChild, PreschoolChildAnimalsPhenotypeCOS CellsThrombocytopenia

Keywords

CBLCBL syndromeNoonan syndromeRAS signalingphenotypic spectrum