Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity Article Swipe
Karen S. Raraigh
,
Sangwoo T. Han
,
Emily F. Davis-Marcisak
,
Taylor A. Evans
,
Matthew J. Pellicore
,
Allison F. McCague
,
Anya T. Joynt
,
Zhongzhou Lu
,
Melis Atalar
,
Neeraj Sharma
,
Molly B. Sheridan
,
Patrick R. Sosnay
,
Garry R. Cutting
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2018.04.003
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2018.04.003
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.ajhg.2018.04.003
- http://www.cell.com/article/S0002929718301356/pdf
- OA Status
- bronze
- Cited By
- 89
- References
- 69
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2803899956
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2803899956Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.ajhg.2018.04.003Digital Object Identifier
- Title
-
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable ExpressivityWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-05-24Full publication date if available
- Authors
-
Karen S. Raraigh, Sangwoo T. Han, Emily F. Davis-Marcisak, Taylor A. Evans, Matthew J. Pellicore, Allison F. McCague, Anya T. Joynt, Zhongzhou Lu, Melis Atalar, Neeraj Sharma, Molly B. Sheridan, Patrick R. Sosnay, Garry R. CuttingList of authors in order
- Landing page
-
https://doi.org/10.1016/j.ajhg.2018.04.003Publisher landing page
- PDF URL
-
https://www.cell.com/article/S0002929718301356/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.cell.com/article/S0002929718301356/pdfDirect OA link when available
- Concepts
-
Missense mutation, Expressivity, Genetics, Phenotype, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
89Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 9, 2024: 7, 2023: 11, 2022: 13, 2021: 10Per-year citation counts (last 5 years)
- References (count)
-
69Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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