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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Human Mutation(2022)10.1002/humu.24498Source: DataRank Database

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals is a research paper published in Human Mutation (2022). On theSindex it has a DataRank of 0. It has been cited 13 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access13 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (11 grants)Impact (FWCI 1.51)OA: hybridTopics (54)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 (16)

Ágnes Mikó,Nastassia Navasiolava ORCID,Ambrus Kaposi ORCID,Shana Verschuere ORCID,Beatrix Molnar

Live enrichment

PubMed:36317459 PMC:PMC9772137 OpenAlex:https://openalex.org/W4307840284

Universiteit Gent

Grant: BOF08/01M01108

Bolyai Foundation

Grant: BO/00730/19/8

European Cooperation in Science and Technology

Grant: CA16‐115