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A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Society for Laboratory Medicine
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748090/ https://www.ncbi.nlm.nih.gov/pubmed/33303725 http://dx.doi.org/10.3343/alm.2021.41.3.350 |
| _version_ | 1783625048052989952 |
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| author | Lee, Cha Gon Ki, Chang-Seok |
| author_facet | Lee, Cha Gon Ki, Chang-Seok |
| author_sort | Lee, Cha Gon |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-7748090 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Korean Society for Laboratory Medicine |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-77480902021-05-01 A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome Lee, Cha Gon Ki, Chang-Seok Ann Lab Med Letter to the Editor Korean Society for Laboratory Medicine 2021-05-01 2021-05-01 /pmc/articles/PMC7748090/ /pubmed/33303725 http://dx.doi.org/10.3343/alm.2021.41.3.350 Text en © Korean Society for Laboratory Medicine https://creativecommons.org/licenses/by-nc/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letter to the Editor Lee, Cha Gon Ki, Chang-Seok A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome |
| title | A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome |
| title_full | A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome |
| title_fullStr | A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome |
| title_full_unstemmed | A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome |
| title_short | A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome |
| title_sort | novel de novo heterozygous arid1a missense variant cluster in cis c.[5954c>g;6314c>t;6334c>t;6843g>c] causes a coffin–siris syndrome |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748090/ https://www.ncbi.nlm.nih.gov/pubmed/33303725 http://dx.doi.org/10.3343/alm.2021.41.3.350 |
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