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Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases

Crossref DOI link: https://doi.org/10.1007/s11033-020-06057-3

Published Online: 2020-12-09

Published Print: 2021-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Marogianni, Chrysoula

Georgouli, Despoina

Dadouli, Katerina

Ntellas, Panagiotis

Rikos, Dimitrios

Hadjigeorgiou, Georgios M.

Spanaki, Cleanthi

Xiromerisiou, Georgia https://orcid.org/0000-0001-7162-3588
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Text and Data Mining valid from 2020-12-09

Version of Record valid from 2020-12-09
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Article History

Received: 21 September 2020

Accepted: 1 December 2020

First Online: 9 December 2020

Compliance with ethical standards

:

: The Authors declare that there is no conflict of interest.

: Our study was approved by the Ethics Committee of the University Hospital of Larissa.

: All study participants (patient, parents) provided written informed consent for further genetic analysis and for publication.

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