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Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Georg Thieme Verlag KG
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378918/ https://www.ncbi.nlm.nih.gov/pubmed/34430966 http://dx.doi.org/10.1055/s-0041-1725072 |
| _version_ | 1783740900263854080 |
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| author | Poon, Kok-Siong Tan, Karen Mei-Ling |
| author_facet | Poon, Kok-Siong Tan, Karen Mei-Ling |
| author_sort | Poon, Kok-Siong |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8378918 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Georg Thieme Verlag KG |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-83789182021-08-23 Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards Poon, Kok-Siong Tan, Karen Mei-Ling Glob Med Genet Georg Thieme Verlag KG 2021-09 2021-03-10 /pmc/articles/PMC8378918/ /pubmed/34430966 http://dx.doi.org/10.1055/s-0041-1725072 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Poon, Kok-Siong Tan, Karen Mei-Ling Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards |
| title | Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards |
| title_full | Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards |
| title_fullStr | Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards |
| title_full_unstemmed | Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards |
| title_short | Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards |
| title_sort | reclassification of whole exome sequencing-derived genetic variants in pendred syndrome with acmg/amp standards |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378918/ https://www.ncbi.nlm.nih.gov/pubmed/34430966 http://dx.doi.org/10.1055/s-0041-1725072 |
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