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A missense, loss-of-functionYARS1variant in a patient with proximal-predominant motor neuropathy

Molecular Case Studies(2022)10.1101/mcs.a006246Source: DataRank Database

A missense, loss-of-functionYARS1variant in a patient with proximal-predominant motor neuropathy is a research paper published in Molecular Case Studies (2022). On theSindex it has a DataRank of 0. It has been cited 3 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access3 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: goldTopics (35)IDs (PubMed, PMC, OpenAlex)Annotations (1)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)

Alayne P. Meyer ORCID,Stephanie M. Laureano Figueroa,Anthony Antonellis ORCID,Megan E. Forrest ORCID

Live enrichment

PubMed:36307205 PMC:PMC9808560 OpenAlex:https://openalex.org/W4307582508

NINDS NIH HHS

Grant: T32 NS007222

NIGMS NIH HHS

Grant: R35 GM136441

NIGMS NIH HHS

Grant: T32 GM007863

National Institutes of Health

Grant: 5R35GM136441-05

Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and Disease

National Institutes of Health

Grant: 5T32NS007222-40

Training in Clinical and Basic Neuroscience

National Institutes of Health

Grant: 5T32GM007863-22

MICHIGAN MEDICAL SCIENTIST TRAINING PROGRAM

goldLicense: cc-by-nc

journalhttp://molecularcasestudies.cshlp.org/content/8/7/a006246.full.pdf

publisherhttp://molecularcasestudies.cshlp.org/content/8/7/a006246.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/mcs.a006246

journalhttps://doi.org/10.1101/mcs.a006246

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36307205

Fields of Study

RNA Research and SplicingRNA regulation and diseaseRNA and protein synthesis mechanisms0301 basic medicine03 medical and health sciences0302 clinical medicine

MeSH Terms

Amino Acyl-tRNA SynthetasesCharcot-Marie-Tooth DiseaseHeterozygoteHumansMutationSaccharomyces cerevisiaeMutation, Missense

Keywords

Missense mutationComplementationGeneticsLoss functionPhenotypeAlleleBiologyCompound heterozygosityGeneLoss of heterozygositySaccharomyces cerevisiaeLower Limb Muscle WeaknessAreflexia Of Upper LimbsGeneralized Limb Muscle AtrophyUpper Limb Muscle WeaknessAmino Acyl-tRNA SynthetasesHeterozygoteCharcot-Marie-Tooth DiseaseMutationMutation, MissenseHumansRapid Communication

Sustainable Development Goals

SDG 0: Good health and well-being