Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features ; volume:10 ; number:1 ; day:7 ; month:8 ; year:2023 ; pages:1-3 ; date:12.2023
Human genome variation ; 10, Heft 1 (7.8.2023), 1-3, 12.2023

Creator: Shimojima Yamamoto, Keiko
Yoshimura, Ayumi
Yamamoto, Toshiyuki

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41439-023-00250-z

URN: urn:nbn:de:101:1-2024032510333142276971

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:47 AM CEST

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Shimojima Yamamoto, Keiko
Yoshimura, Ayumi
Yamamoto, Toshiyuki
SpringerLink (Online service)

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Paternal - [Caricatura]

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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features

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Other Objects (12)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

"Pernicious nonsense"

Nonsense verse

Nonsense novels

Paternal - [Caricatura]

Paternal Duty

Orgullo paternal

Filosofía paternal

Orgullo paternal

Socialismo paternal

Consejo paternal

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

"Pernicious nonsense"

Nonsense verse

Nonsense novels

Paternal - [Caricatura]

Paternal Duty

Orgullo paternal

Filosofía paternal

Orgullo paternal

Socialismo paternal

Consejo paternal

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

"Pernicious nonsense"

Nonsense verse

Nonsense novels

Paternal - [Caricatura]

Paternal Duty

Orgullo paternal

Filosofía paternal

Orgullo paternal

Socialismo paternal

Consejo paternal

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