P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425011938 |
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| _version_ | 1850178280683995136 |
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| author | Jan Verheijen John O'Shea Steven Boyden Thomas Nicholas Erin Baldwin Ashley Andrews Lorenzo Botto David Viskochil Russell Butterfield Pinar Bayrak-Toydemir Rong Mao |
| author_facet | Jan Verheijen John O'Shea Steven Boyden Thomas Nicholas Erin Baldwin Ashley Andrews Lorenzo Botto David Viskochil Russell Butterfield Pinar Bayrak-Toydemir Rong Mao |
| author_sort | Jan Verheijen |
| collection | DOAJ |
| format | Article |
| id | doaj-art-9a2134188cfe4bf5aac62d79f93d532d |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-9a2134188cfe4bf5aac62d79f93d532d2025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310315410.1016/j.gimo.2025.103154P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variabilityJan Verheijen0John O'Shea1Steven Boyden2Thomas Nicholas3Erin Baldwin4Ashley Andrews5Lorenzo Botto6David Viskochil7Russell Butterfield8Pinar Bayrak-Toydemir9Rong Mao10University of Utah Health, ARUP LaboratoriesUniversity of Utah Health, ARUP LaboratoriesDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UTDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTDivision of Pediatric Neurology, University of Utah, Salt Lake City, UTUniversity of Utah Health, ARUP LaboratoriesUniversity of Utah Health, ARUP Laboratorieshttp://www.sciencedirect.com/science/article/pii/S2949774425011938 |
| spellingShingle | Jan Verheijen John O'Shea Steven Boyden Thomas Nicholas Erin Baldwin Ashley Andrews Lorenzo Botto David Viskochil Russell Butterfield Pinar Bayrak-Toydemir Rong Mao P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability Genetics in Medicine Open |
| title | P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability |
| title_full | P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability |
| title_fullStr | P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability |
| title_full_unstemmed | P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability |
| title_short | P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability |
| title_sort | p785 premature termination codon variants in chd1 and sf3b2 in a complex pedigree with phenotypic variability |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425011938 |
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