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Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

Crossref DOI link: https://doi.org/10.1038/s41436-019-0518-x

Published Print: 2019-11

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Lecoquierre, François

Duffourd, Yannis

Vitobello, Antonio

Bruel, Ange-Line

Urteaga, Benoit

Coubes, Christine

Garret, Philippine

Nambot, Sophie

Chevarin, Martin

Jouan, Thibaud

Moutton, Sébastien

Tran-Mau-Them, Frédéric

Philippe, Christophe

Sorlin, Arthur

Faivre, Laurence

Thauvin-Robinet, Christel
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Text and Data Mining valid from 2019-11-01

Text and Data Mining valid from 2019-11-01

Version of Record valid from 2022-01-19
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This article is maintained by: Elsevier

Article Title: Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-019-0518-x

Content Type: article

Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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