Article

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

2018-11-19

Abstract excerpt

Success in precision medicine depends on our ability to determine which rare human genetic variants have functional effects. Classical homocystinuria—characterized by elevated homocyst(e)ine in plasma and urine—is caused by primarily-rare variants in the cystathionine beta-synthase ( CBS ) gene. About half of patients respond to vitamin B 6 therapy. With early detection in newborns, existing therapies are highly...

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Literature Corpus work: 35bcd5f2-34df-54bf-9a2f-12b4da358187
DOI: 10.1101/473983

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