Pilot corpus: NIH-funded biomedical datasets. Any DOI can be scored on demand — network effects sharpen as coverage grows.

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy

The Journal of Clinical Endocrinology & Metabolism(2025)10.1210/clinem/dgaf279Source: DataRank Database

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy is a research paper published in The Journal of Clinical Endocrinology & Metabolism (2025). On theSindex it has a DataRank of 0. It has been cited 4 times.

N/A

0DataRank · unranked

Scored on demand from live citation data

Open Access4 citations

Download PDF

Cite:

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 1.59)OA: greenTopics (39)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)

FAIR checklist signals are shown for context only and do not affect DataRank scoring.

Run a calibrated FAIR evaluation for this paper →

We only score data papers we can read in full — never from an abstract alone.

Authors (3)

Xilong Li ORCID,Abhimanyu Garg ORCID,anum anum

Live enrichment

PubMed:40367289 PMC:PMC12712948 OpenAlex:https://openalex.org/W4410419234

National Institutes of Health

Grant: R01-DK101941

National Institutes of Health

Grant: UL1TR001105

NCATS NIH HHS

National Center for Advancing Translational Sciences

FWCI

1.59

Citation Percentile

0.8%

Citation Trend

2026

greenLicense: https://academic.oup.com/pages/standard-publication-reuse-rights

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12712948/

publisherhttps://academic.oup.com/jcem/advance-article-pdf/doi/10.1210/clinem/dgaf279/63181612/dgaf279.pdf

publisherhttps://academic.oup.com/jcem/article-pdf/111/1/e214/63181612/dgaf279.pdf

journalhttps://doi.org/10.1210/clinem/dgaf279

Fields of Study

Nuclear Structure and FunctionSkin and Cellular Biology ResearchRNA Research and Splicing

MeSH Terms

AdultFemaleHeterozygoteHumansMaleMiddle AgedPedigreePhenotypeRetrospective StudiesMutation, MissenseLamin Type ALipodystrophy, Familial PartialYoung AdultGenetic Association Studies

Keywords

LMNALipodystrophyProbandProgeriaMissense mutationGenotypeMedicineGeneticsPhenotypeHypertriglyceridemiaCompound heterozygosityInternal medicineEndocrinologyBiologyMutationGeneTriglycerideLamin A/cFamilial Partial LipodystrophyFpld2Lmna VariantDunnigan Variety

Sustainable Development Goals

SDG 0: Good health and well-being