Case report:
KPTN gene
epilepsy
macrocephaly
neurodevelopment delay
splice site variant
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2022
2022
Historique:
received:
01
12
2022
accepted:
15
12
2022
entrez:
27
1
2023
pubmed:
28
1
2023
medline:
28
1
2023
Statut:
epublish
Résumé
Biallelic variants in the kaptin gene
Identifiants
pubmed: 36703628
doi: 10.3389/fneur.2022.1113811
pmc: PMC9871926
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1113811Informations de copyright
Copyright © 2023 Horn, Danyel, Erdmann, Boschann, Gunnarsson, Biskup, Juengling, Potratz, Prager and Kaindl.
Déclaration de conflit d'intérêts
SB and JJ were employed by Praxis für Humangenetik Tübingen. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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