Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

Detalles Bibliográficos
Autores principales: Boot, Erik, Linders, Cathelijne C., Tromp, Sterre H., van den Boogaard, Marie‐José, van Eeghen, Agnies M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519085/
https://www.ncbi.nlm.nih.gov/pubmed/34089220
http://dx.doi.org/10.1002/ajmg.a.62380
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author Boot, Erik
Linders, Cathelijne C.
Tromp, Sterre H.
van den Boogaard, Marie‐José
van Eeghen, Agnies M.
author_facet Boot, Erik
Linders, Cathelijne C.
Tromp, Sterre H.
van den Boogaard, Marie‐José
van Eeghen, Agnies M.
author_sort Boot, Erik
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spelling pubmed-85190852021-10-22 Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome Boot, Erik Linders, Cathelijne C. Tromp, Sterre H. van den Boogaard, Marie‐José van Eeghen, Agnies M. Am J Med Genet A Research Letter John Wiley & Sons, Inc. 2021-06-04 2021-10 /pmc/articles/PMC8519085/ /pubmed/34089220 http://dx.doi.org/10.1002/ajmg.a.62380 Text en © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Letter
Boot, Erik
Linders, Cathelijne C.
Tromp, Sterre H.
van den Boogaard, Marie‐José
van Eeghen, Agnies M.
Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
title Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
title_full Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
title_fullStr Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
title_full_unstemmed Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
title_short Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
title_sort possible underreporting of pathogenic variants in rai1 causing smith–magenis syndrome
topic Research Letter
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519085/
https://www.ncbi.nlm.nih.gov/pubmed/34089220
http://dx.doi.org/10.1002/ajmg.a.62380
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AT trompsterreh possibleunderreportingofpathogenicvariantsinrai1causingsmithmagenissyndrome
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