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A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497Source: DataRank Database

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay is a research paper published in Human Mutation (2022). On theSindex it has a DataRank of 0. It has been cited 6 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access6 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 0.84)OA: greenTopics (39)IDs (PubMed, OpenAlex)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 (15)

Wenmiao Zhu,Bo Yuan ORCID,Nicole Walley,Kelly Schoch,Yong‐hui Jiang ORCID

Live enrichment

PubMed:36317458 OpenAlex:https://openalex.org/W4307847194

NHGRI NIH HHS

Grant: U01 HG007674

NHGRI NIH HHS

Grant: U01 HG007672

NHGRI NIH HHS

Grant: U01 HG007709

NICHD NIH HHS

Grant: P50 HD103537

NHGRI NIH HHS

Grant: U01 HG007942

FWCI

0.84

Citation Percentile

0.8%

Citation Trend

2024

2025

2026

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

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9772143

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24497

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.24497

journalhttps://doi.org/10.1002/humu.24497

Fields of Study

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersHumansDNA Copy Number VariationsExomeExome SequencingExonsMuscle HypotoniaMuscular DiseasesProtein Serine-Threonine KinasesRetrospective StudiesInfant

MeSH Terms

Exome SequencingExonsHumansInfantMuscle HypotoniaMuscular DiseasesRetrospective StudiesProtein Serine-Threonine KinasesDNA Copy Number VariationsExome

Keywords

ExonHypotoniaBiologyGeneticsExome sequencingCopy-number variationSNP arrayGlobal developmental delaySingle-nucleotide polymorphismPhenotypeGeneGenotypeTBCKdiagnostic testingrecurrent variantsingle-exon deletion

Sustainable Development Goals

SDG 0: Good health and well-being