Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum Article Swipe
Markus Buelow
,
David Süßmuth
,
Laurie D. Smith
,
Omid Aryani
,
Claudia Castiglioni
,
Werner Stenzel
,
Enrico Bertini
,
Markus Schuelke
,
Ellen Knierim
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1038/s41431-021-00846-5
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1038/s41431-021-00846-5
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41431-021-00846-5
- https://www.nature.com/articles/s41431-021-00846-5.pdf
- OA Status
- hybrid
- Cited By
- 20
- References
- 15
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3136903476
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3136903476Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41431-021-00846-5Digital Object Identifier
- Title
-
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-03-26Full publication date if available
- Authors
-
Markus Buelow, David Süßmuth, Laurie D. Smith, Omid Aryani, Claudia Castiglioni, Werner Stenzel, Enrico Bertini, Markus Schuelke, Ellen KnierimList of authors in order
- Landing page
-
https://doi.org/10.1038/s41431-021-00846-5Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41431-021-00846-5.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
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https://www.nature.com/articles/s41431-021-00846-5.pdfDirect OA link when available
- Concepts
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Hypotonia, Compound heterozygosity, Genetics, Phenotype, Spectrin, Exome sequencing, Myopathy, Biology, Exome, Medicine, Pathology, Gene, Cytoskeleton, CellTop concepts (fields/topics) attached by OpenAlex
- Cited by
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20Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 5, 2023: 3, 2022: 2, 2021: 3Per-year citation counts (last 5 years)
- References (count)
-
15Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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