P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424002760 |
| _version_ | 1797267571200753664 |
|---|---|
| author | Kexin Xu Guozhuang Li Jianguo Zhang Nan Wu |
| author_facet | Kexin Xu Guozhuang Li Jianguo Zhang Nan Wu |
| author_sort | Kexin Xu |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:18:42Z |
| format | Article |
| id | doaj.art-fbf60b77ff054cb28f2d89f1c4e0424e |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:18:42Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-fbf60b77ff054cb28f2d89f1c4e0424e2024-03-09T09:31:18ZengElsevierGenetics in Medicine Open2949-77442024-01-012101130P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotypingKexin Xu0Guozhuang Li1Jianguo Zhang2Nan Wu3Peking Union Medical College HospitalPeking Union Medical College HospitalPeking Union Medical College HospitalPeking Union Medical College Hospitalhttp://www.sciencedirect.com/science/article/pii/S2949774424002760 |
| spellingShingle | Kexin Xu Guozhuang Li Jianguo Zhang Nan Wu P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping Genetics in Medicine Open |
| title | P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping |
| title_full | P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping |
| title_fullStr | P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping |
| title_full_unstemmed | P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping |
| title_short | P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping |
| title_sort | p234 ccn6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by wgs and deep phenotyping |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424002760 |
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