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Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

Neuromuscular Disorders(2020)10.1016/j.nmd.2020.03.005Source: DataRank Database

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs is a research paper published in Neuromuscular Disorders (2020). On theSindex it has a DataRank of 0. It has been cited 15 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access15 citations

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Linked data & code

bioproject gen ensembl

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)Impact (FWCI 0.75)OA: greenTopics (50)IDs (PubMed, PMC, OpenAlex)Annotations (3)SDGs (2)

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 (12)

Katie M. Minor ORCID,Ying Hu,Rupleen Kaur ORCID,Steven G. Friedenberg ORCID,Samantha L. Van Buren ORCID

Live enrichment

PubMed:32439203 PMC:PMC7292757 OpenAlex:https://openalex.org/W3016422074

National Institutes of Health

Grant: 1 K01 OD027058

NIH HHS

Grant: K01 OD027058

NCATS NIH HHS

Grant: KL2 TR002492

NCATS NIH HHS

Grant: UL1 TR002494

National Institutes of Health

Grant: 5K01OD027058-02

Immunological Basis of Autoimmune Addison's Disease in a Novel Canine Model System

National Institutes of Health

FWCI

0.75

Citation Percentile

0.7%

Citation Trend

2020

2021

2022

2023

2024

2025

greenLicense: Elsevier TDM

repositoryhttp://hdl.handle.net/20.500.11820/88a17405-d60d-467d-a0d5-a5893725a50f

publisherhttps://api.elsevier.com/content/article/PII:S096089662030081X?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S096089662030081X?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.nmd.2020.03.005

Fields of Study

Muscle Physiology and DisordersCell Adhesion Molecules ResearchGenetic Syndromes and Imprinting0301 basic medicine03 medical and health sciences0303 health sciences

MeSH Terms

Whole Genome SequencingAnimalsDogsFemaleMaleMuscular DystrophiesPedigreeCollagen Type VI

Keywords

Muscular dystrophyMedicineLabrador RetrieverConnective tissueMyopathyContracturePathologyMuscle contractureCongenital muscular dystrophyAnatomySurgeryInternal medicineMuscleCanineCollagen ViMaleIntellectual and Developmental Disabilities (IDD)Medical PhysiologyClinical SciencesCollagen Type VIMuscular DystrophiesRare DiseasesDogs2.1 Biological and endogenous factorsAnimalsAetiologyPediatricNeurology & NeurosurgeryBiomedical and Clinical SciencesWhole Genome SequencingNeurosciencesBrain DisordersPedigreeMusculoskeletalBiological psychologyFemale

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

FAIR Checklist

Authors (12)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)