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CDK19-Related Disorder Results From Both Loss-of-Function and Gain-of-Function De Novo Missense Variants

CDK19-Related Disorder Results From Both Loss-of-Function and Gain-of-Function De Novo Missense Variants

Authors: Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.

Genet Med. 2021 Jan 25. doi: 10.1038/s41436-020-01091-9. Online ahead of print.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Genetics, Neurology