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Article

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

Scientific data - 15 Jan 2021

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

Abstract excerpt

Rett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2. Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms and faster identification of variants for diagnosis. This is, however, currently hampered by the lack of interoperability between genotype-phenotype databases. Here, we demonstrate on the...

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Identifiers

PMID: 33452270
DOI: 10.1038/s41597-020-00794-7
PMCID: PMC7810705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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