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CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

Background Cerebral folate deficiency (CFD) syndrome is characterised by a low concentration of 5-methyltetrahydrofolate in cerebrospinal fluid, while folate levels in plasma and red blood cells are in the low normal range. Mutations in several folate pathway genes, including FOLR1 (folate receptor...

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Detalles Bibliográficos
Autores principales:	Cao, Xuanye, Wolf, Annika, Kim, Sung-Eun, Cabrera, Robert M., Wlodarczyk, Bogdan J., Zhu, Huiping, Parker, Margaret, Lin, Ying, Steele, John W., Han, Xiao, Ramaekers, Vincent Th, Steinfeld, Robert, Finnell, Richard H., Lei, Yunping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2021
Materias:	Neurogenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895856/ https://www.ncbi.nlm.nih.gov/pubmed/32820034 http://dx.doi.org/10.1136/jmedgenet-2020-106987

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