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Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant
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| Published in: | Journal of Clinical Laboratory Analysis |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1868554010830569475 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Journal of Clinical Laboratory Analysis |
| description | |
| discipline_display | Laboratory and Experimental Medicine |
| discipline_facet | Laboratory and Experimental Medicine |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:93630 |
| institution | FRELIP |
| journal_source_facet | Journal of Clinical Laboratory Analysis |
| last_indexed | 2026-06-20T21:45:54.952Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant Laboratory and Experimental Medicine General Laboratory and Experimental Medicine |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Laboratory and Experimental Medicine General Laboratory and Experimental Medicine |
| subject_facet | Laboratory and Experimental Medicine General Laboratory and Experimental Medicine |
| title | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant |
| title_alt | Resolución de un fenotipo neonatal complejo mediante secuenciación rápida del genoma completo de trío: una deleción de novo 11q14.3–q22.3 y una variante sinónima ANK1 que altera el splicing Résolution d'un phénotype néonatal complexe par séquençage rapide du génome entier en trio : une délétion de novo 11q14.3–q22.3 et un variant synonyme altérant l'épissage d'ANK1 Resolvendo um Fenótipo Neonatal Complexo por Sequenciamento Rápido do Genoma Completo em Trio: Uma Deleção De Novo 11q14.3–q22.3 e uma Variante Sinônima ANK1 Alteradora de Splicing |
| title_auth | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant |
| title_es_txt | Resolución de un fenotipo neonatal complejo mediante secuenciación rápida del genoma completo de trío: una deleción de novo 11q14.3–q22.3 y una variante sinónima ANK1 que altera el splicing |
| title_fr_txt | Résolution d'un phénotype néonatal complexe par séquençage rapide du génome entier en trio : une délétion de novo 11q14.3–q22.3 et un variant synonyme altérant l'épissage d'ANK1 |
| title_full | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant |
| title_fullStr | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant |
| title_full_unstemmed | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant |
| title_pt_txt | Resolvendo um Fenótipo Neonatal Complexo por Sequenciamento Rápido do Genoma Completo em Trio: Uma Deleção De Novo 11q14.3–q22.3 e uma Variante Sinônima ANK1 Alteradora de Splicing |
| title_short | Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant |
| title_sort | resolving a complex neonatal phenotype by rapid trio whole‐genome sequencing: a de novo 11q14.3–q22.3 deletion and a splicing‐altering synonymous ank1 variant |
| topic | Laboratory and Experimental Medicine General Laboratory and Experimental Medicine |
| url | https://onlinelibrary.wiley.com/doi/10.1002/jcla.70289?af=R |