A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Friederike Ehrhart; Annika Jacobsen; Maria Rigau; Mattia Bosio; Rajaram Kaliyaperumal; Jeroen F. J. Laros; Egon L. Willighagen; Alfonso Valencia; Marco Roos; Salvador Capella-gutierrez; Leopold M. G. Curfs; Chris T. Evelo

doi:10.1038/s41597-020-00794-7

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-gutierrez, Leopold M. G. Curfs, Chris T. Evelo

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Article number	10
Number of pages	12
Journal	Scientific data
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41597-020-00794-7
Publication status	Published - 15 Jan 2021

Keywords

X-CHROMOSOME INACTIVATION
GENE
SEVERITY
PROTEIN
SPECTRUM
IMPACT
DOMAIN

Access to Document

10.1038/s41597-020-00794-7Licence: CC BY

Cite this

Ehrhart, Friederike ; Jacobsen, Annika ; Rigau, Maria ; Bosio, Mattia ; Kaliyaperumal, Rajaram ; Laros, Jeroen F. J. ; Willighagen, Egon L. ; Valencia, Alfonso ; Roos, Marco ; Capella-gutierrez, Salvador ; Curfs, Leopold M. G. ; Evelo, Chris T. / A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. In: Scientific data. 2021 ; Vol. 8, No. 1.

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author = "Friederike Ehrhart and Annika Jacobsen and Maria Rigau and Mattia Bosio and Rajaram Kaliyaperumal and Laros, {Jeroen F. J.} and Willighagen, {Egon L.} and Alfonso Valencia and Marco Roos and Salvador Capella-gutierrez and Curfs, {Leopold M. G.} and Evelo, {Chris T.}",

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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. / Ehrhart, Friederike; Jacobsen, Annika; Rigau, Maria; Bosio, Mattia; Kaliyaperumal, Rajaram; Laros, Jeroen F. J.; Willighagen, Egon L.; Valencia, Alfonso; Roos, Marco; Capella-gutierrez, Salvador; Curfs, Leopold M. G.; Evelo, Chris T.

In: Scientific data, Vol. 8, No. 1, 10, 15.01.2021.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Bosio, Mattia

AU - Kaliyaperumal, Rajaram

AU - Laros, Jeroen F. J.

AU - Willighagen, Egon L.

AU - Valencia, Alfonso

AU - Roos, Marco

AU - Capella-gutierrez, Salvador

AU - Curfs, Leopold M. G.

AU - Evelo, Chris T.

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KW - SEVERITY

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KW - SPECTRUM

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