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

5 ). Patient scores derived from the low vitamin B 6 map yielded strong correlations with patient phenotypes that were highly significant: Correlations in terms of Spearman’s ρ were 0.71 ( p = 0.05), 0.86 ( p = 0.003), and 0.93 ( p = 9.91 × 10 −5 ) for age of onset, disease severity, and clinical vitamin B 6 response, respectively.

also in 132,142 other papers