A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data

Detecting clinical grade CNV based on WES is being improved in the NGS era.

Detalles Bibliográficos
Autores principales: López, Maria, Pérez‐Grijalba, Virginia, García‐Cobaleda, Inmaculada, Domínguez‐Garrido, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752442/
https://www.ncbi.nlm.nih.gov/pubmed/33363903
http://dx.doi.org/10.1002/ccr3.3381
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author López, Maria
Pérez‐Grijalba, Virginia
García‐Cobaleda, Inmaculada
Domínguez‐Garrido, Elena
author_facet López, Maria
Pérez‐Grijalba, Virginia
García‐Cobaleda, Inmaculada
Domínguez‐Garrido, Elena
author_sort López, Maria
collection PubMed
description Detecting clinical grade CNV based on WES is being improved in the NGS era.
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spelling pubmed-77524422020-12-23 A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data López, Maria Pérez‐Grijalba, Virginia García‐Cobaleda, Inmaculada Domínguez‐Garrido, Elena Clin Case Rep Case Reports Detecting clinical grade CNV based on WES is being improved in the NGS era. John Wiley and Sons Inc. 2020-09-29 /pmc/articles/PMC7752442/ /pubmed/33363903 http://dx.doi.org/10.1002/ccr3.3381 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
López, Maria
Pérez‐Grijalba, Virginia
García‐Cobaleda, Inmaculada
Domínguez‐Garrido, Elena
A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
title A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
title_full A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
title_fullStr A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
title_full_unstemmed A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
title_short A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
title_sort 22.5 kb deletion in cul4b causing cabezas syndrome identified using cnv approach from wes data
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752442/
https://www.ncbi.nlm.nih.gov/pubmed/33363903
http://dx.doi.org/10.1002/ccr3.3381
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