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Novel variants in PNPLA6 causing syndromic retinal dystrophy

Experimental Eye Research(2020)10.1016/j.exer.2020.108327Source: DataRank Database

Novel variants in PNPLA6 causing syndromic retinal dystrophy is a research paper published in Experimental Eye Research (2020). On theSindex it has a DataRank of 0. It has been cited 20 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access20 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (6 grants)OA: bronzeTopics (62)IDs (PubMed, PMC)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 (8)

Zixi Sun ORCID,Tian Zhu,Richard G. Weleber ORCID,Paul Yang,Xing Wei ORCID

Live enrichment

PubMed:33141049 PMC:PMC7855329

National Institutes of Health

Grant: P30EY010572

National Natural Science Foundation of China

Grant: 81873687

NEI NIH HHS

Grant: K08 EY026650

National Institutes of Health

Grant: 3P30EY010572-20S1

OPHTHALMOLOGY CORE FACILITY

Research to Prevent Blindness

Chinese Academy of Medical Sciences

bronzeLicense: Elsevier TDM

publisherhttps://api.elsevier.com/content/article/PII:S0014483520305856?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0014483520305856?httpAccept=text/plain

https://doi.org/10.1016/j.exer.2020.108327

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7855329

https://pubmed.ncbi.nlm.nih.gov/33141049

Fields of Study

0301 basic medicine03 medical and health sciences0302 clinical medicineAdultChildChild, PreschoolElectroretinographyFemaleGenetic Association StudiesGenetic VariationGenotyping TechniquesHumansMalePedigreePhospholipasesReal-Time Polymerase Chain ReactionRetinal DystrophiesTomography, Optical CoherenceVisual AcuityYoung AdultAcyltransferases

MeSH Terms

HumansPhospholipasesAcyltransferasesTomography, Optical CoherenceElectroretinographyPedigreeVisual AcuityAdultChildChild, PreschoolFemaleMaleGenetic VariationYoung AdultGenetic Association StudiesRetinal DystrophiesReal-Time Polymerase Chain ReactionGenotyping Techniques

Keywords

Oliver-mcfarlane SyndromeSyndromic Retinal DystrophyBoucher-neuhäuser SyndromePnpla6 GeneChoroideremia-likeAdultMaleGenotyping TechniquesVisual AcuityGenetic VariationReal-Time Polymerase Chain ReactionPedigreeYoung AdultPhospholipasesChild, PreschoolRetinal DystrophiesElectroretinographyHumansFemaleChildGenetic Association StudiesTomography, Optical CoherenceAcyltransferases

Sustainable Development Goals

SDG 3: 3. Good health