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Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly

JAAD Case Reports(2025)10.1016/j.jdcr.2025.06.035Source: DataRank Database

Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly is a research paper published in JAAD Case Reports (2025). On theSindex it has a DataRank of 0.

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Enrichment:Funding (4 grants)Impact (FWCI 0.00)OA: goldTopics (15)IDs (PubMed, PMC, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (4)

Iván Pérez,David Schairer,Bryan K. Sun ORCID,Andrea Roso-Mares ORCID

Live enrichment

PubMed:40894452 PMC:PMC12391566 OpenAlex:https://openalex.org/W4412435528

National Institutes of Health

Grant: DP2HG012441

NIAMS NIH HHS

Grant: P30 AR075047

National Institutes of Health

Grant: 7DP2HG012441-02

Insights to Noncoding Disease Variants using Mosaic Diseases

National Human Genome Research Institute

FWCI

0.00

Citation Percentile

0.2%

goldLicense: cc-by

journalhttps://doi.org/10.1016/j.jdcr.2025.06.035

publisherhttps://doi.org/10.1016/j.jdcr.2025.06.035

publisherhttps://api.elsevier.com/content/article/PII:S2352512625002991?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S2352512625002991?httpAccept=text/plain

repositoryhttps://pubmed.ncbi.nlm.nih.gov/40894452

Fields of Study

Connective tissue disorders researchCongenital limb and hand anomaliesVascular Malformations and Hemangiomas0303 health sciences03 medical and health sciences

Keywords

MedicinePolydactylyDermatologyGeneticsAnatomyBiologySKinGlomuvenous MalformationCcm2lCase Report

Sustainable Development Goals

SDG 0: Zero hunger