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Article

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

Genome medicine - 30 Jan 2020

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

Abstract excerpt

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. With early detection, existing therapies are highly effective. METHODS: Damaging CBS variants can be detected based on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32000841
DOI: 10.1186/s13073-020-0711-1
PMCID: PMC6993387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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