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

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

Abstract 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 r...

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Main Authors: Song Sun, Jochen Weile, Marta Verby, Yingzhou Wu, Yang Wang, Atina G. Cote, Iosifina Fotiadou, Julia Kitaygorodsky, Marc Vidal, Jasper Rine, Pavel Ješina, Viktor Kožich, Frederick P. Roth
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Genome Medicine
Online Access:https://doi.org/10.1186/s13073-020-0711-1

Internet

https://doi.org/10.1186/s13073-020-0711-1

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