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Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054956/ https://www.ncbi.nlm.nih.gov/pubmed/33884299 http://dx.doi.org/10.1212/NXG.0000000000000580 |
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author | King-Robson, Josh Marshall, Joseph Smith, Frances Willoughby, Leanne Mansour, Sahar Sztriha, Laszlo |
author_facet | King-Robson, Josh Marshall, Joseph Smith, Frances Willoughby, Leanne Mansour, Sahar Sztriha, Laszlo |
author_sort | King-Robson, Josh |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-8054956 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-80549562021-04-20 Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation King-Robson, Josh Marshall, Joseph Smith, Frances Willoughby, Leanne Mansour, Sahar Sztriha, Laszlo Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2021-03-24 /pmc/articles/PMC8054956/ /pubmed/33884299 http://dx.doi.org/10.1212/NXG.0000000000000580 Text en Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. http://Creative Commons Attribution License 4.0 (CC BY)This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (http://CreativeCommonsAttributionLicense4.0(CCBY)) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Clinical/Scientific Notes King-Robson, Josh Marshall, Joseph Smith, Frances Willoughby, Leanne Mansour, Sahar Sztriha, Laszlo Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation |
title | Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation |
title_full | Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation |
title_fullStr | Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation |
title_full_unstemmed | Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation |
title_short | Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation |
title_sort | ataxia-pancytopenia syndrome due to a de novo samd9l mutation |
topic | Clinical/Scientific Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054956/ https://www.ncbi.nlm.nih.gov/pubmed/33884299 http://dx.doi.org/10.1212/NXG.0000000000000580 |
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