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RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function

Crossref DOI link: https://doi.org/10.1038/s10038-021-00931-z

Published Online: 2021-05-13

Published Print: 2021-11

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

Authors

Samra, Nadra

Toubiana, Shir

Yttervik, Hilde

Tzur-Gilat, Aya

Morani, Ilham

Itzkovich, Chen

Giladi, Liran

Abu Jabal, Kamal

Cao, John Z.

Godley, Lucy A.

Mory, Adi

Baris Feldman, Hagit

Tveten, Kristian https://orcid.org/0000-0003-1316-5843
Selig, Sara https://orcid.org/0000-0001-5759-9948
Weiss, Karin
Funding

Funding for this research was provided by:

Israel Science Foundation (1362/17)

The Clinical Research Institute at Rambam
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Text and Data Mining valid from 2021-05-13

Version of Record valid from 2021-05-13
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Article History

Received: 16 February 2021

Revised: 14 April 2021

Accepted: 14 April 2021

First Online: 13 May 2021

Compliance with ethical standards

:

: The authors declare no competing interests.

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