Shifting landscapes of human MTHFR missense-variant effects

Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily by rare missense variants. Further complicating variant inte...

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Detalles Bibliográficos
Autores principales: Weile, Jochen, Kishore, Nishka, Sun, Song, Maaieh, Ranim, Verby, Marta, Li, Roujia, Fotiadou, Iosifina, Kitaygorodsky, Julia, Wu, Yingzhou, Holenstein, Alexander, Bürer, Céline, Blomgren, Linnea, Yang, Shan, Nussbaum, Robert, Rozen, Rima, Watkins, David, Gebbia, Marinella, Kozich, Viktor, Garton, Michael, Froese, D. Sean, Roth, Frederick P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8322931/
https://www.ncbi.nlm.nih.gov/pubmed/34214447
http://dx.doi.org/10.1016/j.ajhg.2021.05.009

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