In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T
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In this study, we propose reclassification of 5 out of 16 PROC VUS (variants of uncertain significance): C238S, I243T, G403R, P405S, and S421N, as pathogenic variants, associated with thrombophilia due to PROC deficiency. The obtained results are based on in s... ...
