Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly Article Swipe
William L. Macken
,
Annie Godwin
,
Gabrielle Wheway
,
Karen Stals
,
Liliya Nazlamova
,
Sian Ellard
,
Ahmed Alfares
,
Taghrid Aloraini
,
Lamia Alsubaie
,
Majid Alfadhel
,
Sulaiman Al-Ajaji
,
Htoo A. Wai
,
Jay Self
,
Andrew G. L. Douglas
,
Alexander P. Kao
,
Matthew Guille
,
Diana Baralle
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s13073-021-00850-w
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s13073-021-00850-w
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s13073-021-00850-w
- https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-021-00850-w
- OA Status
- gold
- Cited By
- 34
- References
- 64
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3130792055
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3130792055Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s13073-021-00850-wDigital Object Identifier
- Title
-
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephalyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-02-25Full publication date if available
- Authors
-
William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia Alsubaie, Majid Alfadhel, Sulaiman Al-Ajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana BaralleList of authors in order
- Landing page
-
https://doi.org/10.1186/s13073-021-00850-wPublisher landing page
- PDF URL
-
https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-021-00850-wDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-021-00850-wDirect OA link when available
- Concepts
-
Biology, Microcephaly, Missense mutation, Genetics, Frameshift mutation, Exome sequencing, Exon skipping, Exome, Exon, Mutation, Gene, Alternative splicingTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
34Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 6, 2023: 8, 2022: 8, 2021: 5Per-year citation counts (last 5 years)
- References (count)
-
64Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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