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Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

BACKGROUND: to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1(DEL)) identified in a family presenting with isolated respiratory disease, in comparison to another frameshift variant (c.254dup denominated NKX2-1(DUP)) identified in a subject with...

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Detalles Bibliográficos
Autores principales:	Delestrain, Céline, Aissat, Abdel, Nattes, Elodie, Gibertini, Isabelle, Lacroze, Valérie, Simon, Stéphanie, Decrouy, Xavier, de Becdelièvre, Alix, Fanen, Pascale, Epaud, Ralph
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9888430/ https://www.ncbi.nlm.nih.gov/pubmed/36733766 http://dx.doi.org/10.3389/fped.2022.978598

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