ArticleInternational journal of molecular sciences2023
A Novel Variant in
Katarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I Wadman, Erik-Jan Kamsteeg, Zhiyong Chen, Ashirwad Merve, Matthew Parton, Enrico Bugiardini, Charlotte de Bie, Joanna Moraczewska
Open access · goldAbstract read
In one paragraphArticle in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
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4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
10 authors at 6 institutions in 5 countries.
Katarzyna RobaszkiewiczDepartment of Biochemistry and Cell Biology, Kazimierz Wielki University, 85-671 Bydgoszcz, Poland.
Małgorzata SiatkowskaDepartment of Biochemistry and Cell Biology, Kazimierz Wielki University, 85-671 Bydgoszcz, Poland.
Renske I WadmanDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Erik-Jan KamsteegDepartment of Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Zhiyong ChenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.ORCID 0000-0002-3086-8631 Ashirwad MerveDepartment of Neuropathology, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.
Matthew PartonDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.
Enrico BugiardiniDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.
Charlotte de BieDepartment of Genetics, University Medical Utrecht, 3584 CX Utrecht, The Netherlands.
Joanna MoraczewskaDepartment of Biochemistry and Cell Biology, Kazimierz Wielki University, 85-671 Bydgoszcz, Poland.
Kazimierz Wielki University in Bydgoszcz · PLNational Hospital for Neurology and Neurosurgery · GBNational Neuroscience Institute · SGRadboud University Nijmegen · NLUniversity Medical Center Utrecht · NLUtrecht University · NL
Funding
the Polish Minister of Education and Science under the program "Regional Initiative of Excel-lence" in 2019-2023 Grant No. 008/RID/2018/19
6 · The paper itselfAbstract
A novel variant of unknown significance c.8A > G (p.Glu3Gly) in
Indexed as
ContractureMyopathies, NemalineActinsChild, PreschoolHumansMuscle, SkeletalMuscle WeaknessMutationMyosinsPhenotypeTropomyosinTroponinActinsMyosinsTPM3 protein, humanTropomyosinTroponinnemaline myopathypathogenic variantthin filamenttropomyosin
Identifiers
PMID38003336
PMCPMC10671854
OpenAlexW4388571806
What OpenQuestion holds
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LicenceCC BY
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