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A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals

PLoS Genetics(2020)10.1371/journal.pgen.1009028Source: DataRank Database

A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals is a research paper published in PLoS Genetics (2020). On theSindex it has a DataRank of 0. It has been cited 11 times.

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Open Access11 citations

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Enrichment:Funding (7 grants)OA: goldTopics (44)IDs (PubMed, PMC)Annotations (4)

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Accessible (1/2)

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Authors (15)

K. Gary Magdesian ORCID,Sophia Fagan,Nathan M. Slovis ORCID,Daniela Luethy ORCID,Laura H. Javsicas

Live enrichment

PubMed:32986719 PMC:PMC7544121

Center for Equine Health UC Davis

Grant: 17-14 and 20-6

NIH Office of the Director

Grant: K05OD015134

National Center for Advancing Translational Sciences

Grant: L40 TR001136

National Institute of Child Health and Human Development

Grant: R01HD081379

NIH HHS

Grant: K01 OD015134

National Institutes of Health

Grant: 5R01HD081379-03

A system approach to the analysis of Heterotaxy Candiate Genes

National Institutes of Health

Grant: 3K01OD015134-04S1

Molecular pathogenesis of alpha-tocopherol associated neuroaxonal dystrophy in an

goldLicense: cc-by

publisherhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009028&type=printable

publisherhttps://dx.plos.org/10.1371/journal.pgen.1009028

repositoryhttps://doaj.org/article/2c1034f6661f44d2a4f15c4d1f2245bc

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7544121

Europe_PMChttps://europepmc.org/articles/PMC7544121

Fields of Study

0301 basic medicine03 medical and health sciences0303 health sciences

MeSH Terms

Embryo, NonmammalianAnimalsXenopusHorsesHypocalcemiaHypoparathyroidismHorse Diseasesras Guanine Nucleotide Exchange FactorsCodon, NonsensePedigreeHomozygoteFemaleMaleWhole Genome Sequencing

Keywords

MaleEmbryo, NonmammalianHypoparathyroidismXenopusQH426-470630Rare DiseasesGenetics2.1 Biological and endogenous factorsAnimalsHorsesCodonNonmammalianHypocalcemiaWhole Genome SequencingHomozygote600Biological SciencesPedigreeNonsenseEmbryoCodon, NonsenseFemaleHorse Diseasesras Guanine Nucleotide Exchange FactorsDevelopmental BiologyResearch Article

A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals

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Authors (15)

Funding (7 grants)

Open Access

Topics

Annotations (Europe PMC)