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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human Mutation(2022)10.1002/humu.24371Source: DataRank Database

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia is a research paper published in Human Mutation (2022). 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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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)Impact (FWCI 1.41)OA: hybridTopics (16)IDs (PubMed, OpenAlex)SDGs (2)

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 (51)

Britta Baumann,Peggy Reuter ORCID,Sten Andréasson ORCID,Isabelle Audo ORCID,Carmen Ayuso ORCID

Live enrichment

PubMed:35332618 OpenAlex:https://openalex.org/W4220967479

Deutsche Forschungsgemeinschaft

Grant: KO 2176/3‐1

Deutsche Forschungsgemeinschaft

Grant: 398539671

Deutsche Forschungsgemeinschaft

Grant: STI 727/1‐1

Deutsche Forschungsgemeinschaft

Grant: 399487883

Foundation Fighting Blindness

Grant: BR‐GE‐0120‐0775‐LUMC

Foundation Fighting Blindness

Grant: BR‐GE‐0619‐0761‐INSERM

FWCI

1.41

Citation Percentile

0.8%

Citation Trend

2023

2024

2025

2026

hybridLicense: other-oa

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24371

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24371

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24371

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.24371

journalhttps://doi.org/10.1002/humu.24371

Fields of Study

Retinal Development and DisordersConnexins and lens biologyGlaucoma and retinal disorders

MeSH Terms

Color Vision DefectsHumansMutationRetinal Cone Photoreceptor CellsCyclic Nucleotide-Gated Cation Channels

Keywords

AchromatopsiaMissense mutationGeneticsBiologyBrachydactylyGeneMutationRetinal

Sustainable Development Goals

SDG 0: Reduced inequalitiesSDG 0: Peace, Justice and strong institutions