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A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

BACKGROUND: For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. Wit...

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Detalles Bibliográficos
Autores principales:	Sun, Song, Weile, Jochen, Verby, Marta, Wu, Yingzhou, Wang, Yang, Cote, Atina G., Fotiadou, Iosifina, Kitaygorodsky, Julia, Vidal, Marc, Rine, Jasper, Ješina, Pavel, Kožich, Viktor, Roth, Frederick P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993387/ https://www.ncbi.nlm.nih.gov/pubmed/32000841 http://dx.doi.org/10.1186/s13073-020-0711-1

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