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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289858/ https://www.ncbi.nlm.nih.gov/pubmed/35860725 http://dx.doi.org/10.1016/j.xhgg.2022.100122 |
| _version_ | 1784748760141660160 |
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| author | Nair, Divya Li, Dong Erdogan, Hannah Yoon, Andrew Harr, Margaret H. Bergant, Gaber Peterlin, Borut Pušenjak, Maruša Škrjanec Jayakar, Parul Pfundt, Rolph Jansen, Sandra McWalter, Kirsty Sidhu, Alpa Saliganan, Sheila Agolini, Emanuele Jacob, Arthur Pasquier, Jennifer Arash, Rafii Kahrizi, Kimia Najmabadi, Hossein Ropers, Hans-Hilger Bhoj, Elizabeth J. |
| author_facet | Nair, Divya Li, Dong Erdogan, Hannah Yoon, Andrew Harr, Margaret H. Bergant, Gaber Peterlin, Borut Pušenjak, Maruša Škrjanec Jayakar, Parul Pfundt, Rolph Jansen, Sandra McWalter, Kirsty Sidhu, Alpa Saliganan, Sheila Agolini, Emanuele Jacob, Arthur Pasquier, Jennifer Arash, Rafii Kahrizi, Kimia Najmabadi, Hossein Ropers, Hans-Hilger Bhoj, Elizabeth J. |
| author_sort | Nair, Divya |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9289858 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-92898582022-07-19 Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 Nair, Divya Li, Dong Erdogan, Hannah Yoon, Andrew Harr, Margaret H. Bergant, Gaber Peterlin, Borut Pušenjak, Maruša Škrjanec Jayakar, Parul Pfundt, Rolph Jansen, Sandra McWalter, Kirsty Sidhu, Alpa Saliganan, Sheila Agolini, Emanuele Jacob, Arthur Pasquier, Jennifer Arash, Rafii Kahrizi, Kimia Najmabadi, Hossein Ropers, Hans-Hilger Bhoj, Elizabeth J. HGG Adv Correction Elsevier 2022-07-12 /pmc/articles/PMC9289858/ /pubmed/35860725 http://dx.doi.org/10.1016/j.xhgg.2022.100122 Text en © 2021 The Author(s) https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| spellingShingle | Correction Nair, Divya Li, Dong Erdogan, Hannah Yoon, Andrew Harr, Margaret H. Bergant, Gaber Peterlin, Borut Pušenjak, Maruša Škrjanec Jayakar, Parul Pfundt, Rolph Jansen, Sandra McWalter, Kirsty Sidhu, Alpa Saliganan, Sheila Agolini, Emanuele Jacob, Arthur Pasquier, Jennifer Arash, Rafii Kahrizi, Kimia Najmabadi, Hossein Ropers, Hans-Hilger Bhoj, Elizabeth J. Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| title | Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| title_full | Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| title_fullStr | Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| title_full_unstemmed | Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| title_short | Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| title_sort | discovery of a neuromuscular syndrome caused by biallelic variants in ascc3 |
| topic | Correction |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289858/ https://www.ncbi.nlm.nih.gov/pubmed/35860725 http://dx.doi.org/10.1016/j.xhgg.2022.100122 |
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