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Loss-of-function mutations in Carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss

Mechanisms of Development(2017)10.1016/j.mod.2017.04.033Source: DataRank Database

Loss-of-function mutations in Carboxypeptidase D cause a new syndrome with lymphedema and sensorineural hearing loss is a research paper published in Mechanisms of Development (2017). On theSindex it has a DataRank of 0.

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0DataRank · unranked

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0 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Impact (FWCI 0.00)OA: closedTopics (18)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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Authors (5)

Emmanuelle Szenker,Umut Altunoglu,Hulya Kayserili,Bruno Reversade ORCID,Simone Laupheimer

Live enrichment

PubMed:23304386 OpenAlex:https://openalex.org/W2623124010

FWCI

0.00

Citation Percentile

0.1%

closed

journalhttps://doi.org/10.1016/j.mod.2017.04.033

Fields of Study

Cellular transport and secretionMyasthenia Gravis and ThymomaBiotin and Related Studies

Keywords

LymphedemaSensorineural hearing lossHearing lossLoss functionBiologyCarboxypeptidaseAudiologyInternal medicineGeneticsMedicinePhenotypeCancerEnzymeBiochemistryGene

Sustainable Development Goals

SDG 0: Good health and well-being