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LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057Source: DataRank Database

LONP1 Variants Are Associated With Clinically Diverse Phenotypes is a research paper published in Clinical Genetics (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Open Access1 citations

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omim refseq uniprot pdb doi

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (4 grants)Topics (28)IDs (PubMed, PMC)Annotations (5)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (39)

Lu Qiao ORCID,Rebecca Hernan ORCID,David A. Sweetser ORCID,Jessica L. Waxler,Daryl A. Scott ORCID

Live enrichment

PubMed:40931319 PMC:PMC13261574

National Institutes of Health

Grant: P01HD068250

NINDS NIH HHS

Grant: R01 NS127108

National Institute of Neurological Disorders and Stroke of the National Institutes of Health

Grant: U01HG007943

National Institute of Neurological Disorders and Stroke of the National Institutes of Health

Grant: U01HG007709

MeSH Terms

MitochondriaHumansOsteochondrodysplasiasHip Dislocation, CongenitalCraniofacial AbnormalitiesTooth AbnormalitiesEye AbnormalitiesAbnormalities, MultipleGenetic Predisposition to DiseaseGrowth DisordersATP-Dependent ProteasesMitochondrial ProteinsPhenotypeMutationMutation, MissenseAllelesChildChild, PreschoolInfantFemaleMaleGenetic Association StudiesNeurodevelopmental Disorders

Keywords

Congenital Diaphragmatic HerniaNeurodevelopmental DisorderMitochondrial EncephalopathyLonp1Codas

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

FAIR Checklist

Authors (39)

Funding (4 grants)

Topics

Annotations (Europe PMC)