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Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.2015Source: DataRank Database

Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals is a research paper published in Molecular Genetics & Genomic Medicine (2022). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Open Access2 citations

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Enrichment:Funding (3 grants)Impact (FWCI 0.23)OA: goldTopics (45)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 (6)

Wolf‐Dieter Schubert ORCID,Christiaan Labuschagne ORCID,Denise Yan ORCID,Michael Sean Pepper ORCID,Xuezhong Liu

Live enrichment

PubMed:36029164 OpenAlex:https://openalex.org/W4293367032

National Institutes of Health

Grant: 2R01DC012115-06A1

Implementing genomic medicine in clinical care of deaf patients

National Institutes of Health

Grant: 5R01DC005575-09

Molecular Genetics of Non-Syndromic Deafness

NIDCD NIH HHS

Grant: R01 DC012115

FWCI

0.23

Citation Percentile

0.4%

Citation Trend

2022

2024

goldLicense: cc-by

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.2015

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.2015

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2015

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.2015

journalhttps://doi.org/10.1002/mgg3.2015

Fields of Study

Hearing, Cochlea, Tinnitus, GeneticsVestibular and auditory disordersGenetic Neurodegenerative Diseases0301 basic medicine03 medical and health sciencesHumansActinsDeafnessHearing Loss, SensorineuralMicrofilament ProteinsProtein IsoformsSouth AfricaDeafness, Autosomal Recessive 28Nonsyndromic Deafness

MeSH Terms

ActinsDeafnessHearing Loss, SensorineuralHumansMicrofilament ProteinsSouth AfricaProtein Isoforms

Keywords

Sanger sequencingGeneticsBiologyHearing lossExome sequencingExonGeneCandidate geneDNA sequencingPhenotypeMedicineautosomal recessive nonsyndromic hearing lossHearing Loss, SensorineuralMicrofilament ProteinsOriginal ArticlesQH426-470DeafnessTRIOBP R1 and R2 repeat motifsActinsIndigenous South AfricansSouth AfricaHumansProtein IsoformsDFNB28

Sustainable Development Goals

SDG 0: Quality Education