A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
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| Veröffentlicht in: | American journal of medical genetics. Part A 2023, Vol.191 (6), p.1646-1651 |
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| Hauptverfasser: | , , , , , , |
| Format: | Report |
| Sprache: | eng |
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| container_end_page | 1651 |
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| container_issue | 6 |
| container_start_page | 1646 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 191 |
| creator | Baker, Elizabeth K Al Gharaibeh, Faris N Bove, Kevin Calvo-Garcia, Maria A Shillington, Amelle VandenHeuvel, Katherine Cortezzo, DonnaMaria E |
| description | |
| doi_str_mv | 10.1002/ajmg.a.63188 |
| format | Report |
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| fulltext | fulltext |
| identifier | EISSN: 1552-4833 |
| ispartof | American journal of medical genetics. Part A, 2023, Vol.191 (6), p.1646-1651 |
| issn | 1552-4833 |
| language | eng |
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| source | Wiley Online Library All Journals |
| title | A novel RYR1 variant in an infant with a unique fetal presentation of central core disease |
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