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Saturation mutagenesis-reinforced functional assays for disease-related genes

Cell(2024)10.1016/j.cell.2024.08.047Source: DataRank Database

Saturation mutagenesis-reinforced functional assays for disease-related genes is a research paper published in Cell (2024). On theSindex it has a DataRank of 0. It has been cited 21 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access21 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (10 grants)Impact (FWCI 3.92)OA: greenTopics (30)IDs (PubMed, PMC, OpenAlex)Annotations (3)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)

Shushu Huang ORCID,Kenneth Ng ORCID,Nicole J. Lake ORCID,Soumya Joseph ORCID,J. Xu ORCID

Live enrichment

PubMed:39326416 PMC:PMC11568926 OpenAlex:https://openalex.org/W4402843612

National Institute of Allergy and Infectious Diseases

Grant: MDA 963708

National Institute of Allergy and Infectious Diseases

Grant: R01AI139238

National Cancer Institute

Grant: P30 CA016359

Muscular Dystrophy Association

Grant: 629095

Chan Zuckerberg Initiative

Grant: 2022-309740

National Institutes of Health

Grant: P50NS053672

National Institutes of Health

Grant: / 5F32AR079892-02

NIAMS NIH HHS

Grant: F32 AR079892

National Institute of Neurological Disorders and Stroke

Howard Hughes Medical Institute

FWCI

3.92

Citation Percentile

0.9%

Citation Trend

2024

2025

2026

greenLicense: http://www.elsevier.com/open-access/userlicense/1.0/

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11568926/pdf/nihms-2020797.pdf

publisherhttps://api.elsevier.com/content/article/PII:S0092867424009760?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0092867424009760?httpAccept=text/plain

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11568926

Fields of Study

CRISPR and Genetic EngineeringRNA and protein synthesis mechanismsGenetics and Neurodevelopmental DisordersMedicineBiology

MeSH Terms

HumansMutationNeuromuscular DiseasesMutagenesisPolymorphism, Single NucleotideUbiquitin-Protein Ligases

Keywords

BiologySaturated mutagenesisGeneSaturation (graph theory)MutagenesisGeneticsComputational biologyMutationMutantMuscular dystrophiesGenetic diseasesDiagnosticsDystroglycanopathiesSaturation MutagenesisDeep Mutational ScanningVariant Effect PredictionVariants Of Uncertain SignificanceHigh-throughput Functional AssaysCost-effective Variant Interpretation

Sustainable Development Goals

SDG 0: Zero hunger