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Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.22.110668Source: DataRank Database

Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans is a research paper published in bioRxiv (Cold Spring Harbor Laboratory) (2020). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (2 grants)OA: greenTopics (33)IDs (PubMed)SDGs (1)

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Authors (4)

Sofia Tsiropoulou,Katarzyna Kucharska ORCID,Oliver E. Blacque ORCID,Karen I. Lange ORCID

Live enrichment

PubMed:33234550

National Institutes of Health

Grant: 1P40OD010440-01

Caenorhabditis Genetics Center

Science Foundation Ireland

Grant: 16/BBSRC/3394

Bilateral BBSRC-SFI: Structure-function relationships in the ciliary transition zone

greenLicense: https://www.biorxiv.org/about/FAQ#license

repositoryhttps://www.biorxiv.org/content/biorxiv/early/2020/07/11/2020.05.22.110668.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2020.05.22.110668

https://doi.org/10.1101/2020.05.22.110668

https://journals.biologists.com/dmm/article-pdf/14/1/dmm046631/1821022/dmm046631.pdf

https://doi.org/10.1242/dmm.046631

Fields of Study

0301 basic medicine03 medical and health sciences0303 health sciences

Keywords

GenotypeMutation, MissenseRetinab9d2Joubert syndromeCerebellumPathologyRB1-214AnimalsHumansAbnormalities, Multiplemksr-2CiliaEye AbnormalitiesCaenorhabditis elegansCaenorhabditis elegans ProteinsAllelesGenetic Association StudiesGene EditingTransition zonec. elegansRMembrane ProteinsKidney Diseases, CysticDisease Models, AnimalPhenotypeMutationMedicineCRISPR-Cas SystemsResearch Article

Sustainable Development Goals

SDG 3: 3. Good health