Cargando…
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
| Autores principales: | , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961759/ https://www.ncbi.nlm.nih.gov/pubmed/33547136 http://dx.doi.org/10.1136/jmedgenet-2020-107528 |
| _version_ | 1784677665423228928 |
|---|---|
| author | Ragoussis, Vassilis Pagnamenta, Alistair T Haines, Rebecca L Giacopuzzi, Edoardo McClatchey, Martin A Sampson, Julian R Suri, Mohnish Gardham, Alice Cobben, Jan-Maarten Osio, Deborah Fry, Andrew E Taylor, Jenny C |
| author_facet | Ragoussis, Vassilis Pagnamenta, Alistair T Haines, Rebecca L Giacopuzzi, Edoardo McClatchey, Martin A Sampson, Julian R Suri, Mohnish Gardham, Alice Cobben, Jan-Maarten Osio, Deborah Fry, Andrew E Taylor, Jenny C |
| author_sort | Ragoussis, Vassilis |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8961759 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | BMJ Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-89617592022-04-11 Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation Ragoussis, Vassilis Pagnamenta, Alistair T Haines, Rebecca L Giacopuzzi, Edoardo McClatchey, Martin A Sampson, Julian R Suri, Mohnish Gardham, Alice Cobben, Jan-Maarten Osio, Deborah Fry, Andrew E Taylor, Jenny C J Med Genet Neurogenetics BMJ Publishing Group 2022-04 2021-02-05 /pmc/articles/PMC8961759/ /pubmed/33547136 http://dx.doi.org/10.1136/jmedgenet-2020-107528 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Neurogenetics Ragoussis, Vassilis Pagnamenta, Alistair T Haines, Rebecca L Giacopuzzi, Edoardo McClatchey, Martin A Sampson, Julian R Suri, Mohnish Gardham, Alice Cobben, Jan-Maarten Osio, Deborah Fry, Andrew E Taylor, Jenny C Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation |
| title | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation |
| title_full | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation |
| title_fullStr | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation |
| title_full_unstemmed | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation |
| title_short | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation |
| title_sort | using data from the 100,000 genomes project to resolve conflicting interpretations of a recurrent tubb2a mutation |
| topic | Neurogenetics |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961759/ https://www.ncbi.nlm.nih.gov/pubmed/33547136 http://dx.doi.org/10.1136/jmedgenet-2020-107528 |
| work_keys_str_mv | AT ragoussisvassilis usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT pagnamentaalistairt usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT hainesrebeccal usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT giacopuzziedoardo usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT mcclatcheymartina usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT sampsonjulianr usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT surimohnish usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT gardhamalice usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT cobbenjanmaarten usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT osiodeborah usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT fryandrewe usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation AT taylorjennyc usingdatafromthe100000genomesprojecttoresolveconflictinginterpretationsofarecurrenttubb2amutation |