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Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

INTRODUCTION: Replication of the nuclear genome is an essential step for cell division. Pathogenic variants in genes coding for highly conserved components of the DNA replication machinery cause Meier-Gorlin syndrome (MGORS). OBJECTIVE: Identification of novel genes associated with MGORS. METHODS: E...

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Detalles Bibliográficos
Autores principales:	Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340002/ https://www.ncbi.nlm.nih.gov/pubmed/34353863 http://dx.doi.org/10.1136/jmedgenet-2020-107572

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