Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes

Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These diseases present in a broad phenotypic spectrum: at the severe end is Neu–Laxova syndrome, in the intermediate range are infantile ser...

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Detalles Bibliográficos
Autores principales: Xie, Michael J., Cromie, Gareth A., Owens, Katherine, Timour, Martin S., Tang, Michelle, Kutz, J. Nathan, El-Hattab, Ayman W., McLaughlin, Richard N., Dudley, Aimée M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10561871/
https://www.ncbi.nlm.nih.gov/pubmed/37812589
http://dx.doi.org/10.1371/journal.pgen.1010972

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