P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423004806 |
| _version_ | 1797341959626424320 |
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| author | Muqsit Buchh Patrick Gillespie Kayla Treat Marco Abreu Tae-Hwi Schwantes-An Benjamin Helm Fang Fang Xaoling Xuei Lili Mantcheva Kristen Suhrie Brett Graham Erin Conboy Francesco Vetrini |
| author_facet | Muqsit Buchh Patrick Gillespie Kayla Treat Marco Abreu Tae-Hwi Schwantes-An Benjamin Helm Fang Fang Xaoling Xuei Lili Mantcheva Kristen Suhrie Brett Graham Erin Conboy Francesco Vetrini |
| author_sort | Muqsit Buchh |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:30Z |
| format | Article |
| id | doaj.art-4f4a06a6b1334000b632b4fc859dd40d |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:30Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-4f4a06a6b1334000b632b4fc859dd40d2024-01-27T07:08:38ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100480P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type IIIMuqsit Buchh0Patrick Gillespie1Kayla Treat2Marco Abreu3Tae-Hwi Schwantes-An4Benjamin Helm5Fang Fang6Xaoling Xuei7Lili Mantcheva8Kristen Suhrie9Brett Graham10Erin Conboy11Francesco Vetrini12Indiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineUndiagnosed Rare Disease Clinic (URDC), Indiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineIndiana University School of MedicineUndiagnosed Rare Disease Clinic (URDC), Indiana University School of MedicineUndiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774423004806 |
| spellingShingle | Muqsit Buchh Patrick Gillespie Kayla Treat Marco Abreu Tae-Hwi Schwantes-An Benjamin Helm Fang Fang Xaoling Xuei Lili Mantcheva Kristen Suhrie Brett Graham Erin Conboy Francesco Vetrini P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III Genetics in Medicine Open |
| title | P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III |
| title_full | P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III |
| title_fullStr | P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III |
| title_full_unstemmed | P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III |
| title_short | P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III |
| title_sort | p433 a novel deep intronic variant in dync2h1 characterized through exome reanalysis in a neonate with short rib thoracic dysplasia type iii |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423004806 |
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