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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency

Genetic variants in SLC22A5, encoding the membrane carnitine transporter OCTN2, cause the rare metabolic disorder Carnitine Transporter Deficiency (CTD). CTD is potentially lethal but actionable if detected early, with confirmatory diagnosis involving sequencing of SLC22A5. Interpretation of missens...

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Detalles Bibliográficos
Autores principales:	Koleske, Megan L., McInnes, Gregory, Brown, Julia E. H., Thomas, Neil, Hutchinson, Keino, Chin, Marcus Y., Koehl, Antoine, Arkin, Michelle R., Schlessinger, Avner, Gallagher, Renata C., Song, Yun S., Altman, Russ B., Giacomini, Kathleen M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2022
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674959/ https://www.ncbi.nlm.nih.gov/pubmed/36343260 http://dx.doi.org/10.1073/pnas.2210247119

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