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& Timchenko, N

In their prospective study, Kuwasawa-Iwasaki, M

In summary, variant effect maps based on experimental measurements of the growth of yeast cells expressing human CBS gene variants, without any further computational fitting or calibration based on human traits, yielded diploid scores that strongly correlated with clinical phenotypes in patients with classical homocystinuria

10.1016/j.bcmd.2008.12.005 [DOI] [PubMed] [Google Scholar] 7.Howes RE, Piel FB, Patil AP, Nyangiri OA, Gething PW, Dewi M, et al

Triton-X, Brij35, alamethicin)

Due to the technical complexity such as substrate infusions and radiofrequency power deposition, and the high cost of 13 C labelled compounds, its application in humans is limited as compared to animals