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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense vari...

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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense vari...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2481101081

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

About this item

Full title

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Author / Creator

Zarate, Yuri A. , Uehara, Tomoko , Abe, Kota , Oginuma, Masayuki , Harako, Sora , Ishitani, Shizuka , Lehesjoki, Anna-Elina , Bierhals, Tatjana , Kloth, Katja , Ehmke, Nadja , Horn, Denise , Holtgrewe, Manuel , Anderson, Katherine , Viskochil, David , Edgar-Zarate, Courtney L. , Sacoto, Maria J. Guillen , Schnur, Rhonda E. , Morrow, Michelle M. , Sanchez-Valle, Amarilis , Pappas, John , Rabin, Rachel , Muona, Mikko , Anttonen, Anna-Kaisa , Platzer, Konrad , Luppe, Johannes , Gburek-Augustat, Janina , Kaname, Tadashi , Okamoto, Nobuhiko , Mizuno, Seiji , Kaido, Yusaku , Ohkuma, Yoshiaki , Hirose, Yutaka , Ishitani, Tohru and Kosaki, Kenjiro

Publisher

New York: Elsevier Inc

Journal title

Genetics in medicine, 2021-06, Vol.23 (6), p.1050-1057

Language

English

Formats

Articles

Publication information

Publisher

New York: Elsevier Inc

Subjects

More information

Scope and Contents

Contents

To expand the recent description of a new neurodevelopmental syndrome related to alterations in CDK19.
Individuals were identified through international collaboration. Functional studies included autophosphorylation assays for CDK19 Gly28Arg and Tyr32His variants and in vivo zebrafish assays of the CDK19G28R and CDK19Y32H.
We describe 11 unre...

Alternative Titles

Full title

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2481101081

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2481101081

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-020-01091-9

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