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Hermansky–Pudlak syndrome: Mutation update

Human Mutation(2020)10.1002/humu.23968Source: DataRank Database

Hermansky–Pudlak syndrome: Mutation update is a research paper published in Human Mutation (2020). On theSindex it has a DataRank of 0. It has been cited 113 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access113 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (1 grants)Impact (FWCI 6.77)OA: greenTopics (37)IDs (PubMed, PMC, OpenAlex)Annotations (2)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 (10)

May Christine V. Malicdan ORCID,Jennifer A. Wang,Hadass Pri‐Chen,Richard A. Hess,Roxanne Fischer

Live enrichment

PubMed:31898847 PMC:PMC8175076 OpenAlex:https://openalex.org/W2998548732

Intramural NIH HHS

Grant: Z01 HG000215

FWCI

6.77

Citation Percentile

1.0%

Influential Citations

Citation Trend

2020

2021

2022

2023

2024

2025

2026

greenLicense: http://doi.wiley.com/10.1002/tdm_license_1.1

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/8175076

GOLDhttps://doi.org/10.1002/humu.23968

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/8175076

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.23968

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23968

Fields of Study

melanin and skin pigmentationOlfactory and Sensory Function StudiesBiochemical Analysis and Sensing TechniquesBiologyMedicineAllelesGenetic Association StudiesGenetic Predisposition to DiseaseHermanski-Pudlak SyndromeHumansIntracellular Signaling Peptides and ProteinsMembrane ProteinsMultigene FamilyMutationPhenotype

MeSH Terms

AllelesMultigene FamilyHumansMembrane ProteinsMutationPhenotypeGenetic Predisposition to DiseaseHermanski-Pudlak SyndromeIntracellular Signaling Peptides and ProteinsGenetic Association Studies

Keywords

BiologyHermansky–Pudlak syndromeGeneticsMutationInternal medicineGenePulmonary fibrosisalbinismHypopigmentationGranulomatous ColitisBleeding DiathesisBiogenesis Of Lysosome-related Organelles

Sustainable Development Goals

SDG 0: Good health and well-being