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In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T.

Mutation research - 1 Jan 2025

Hristov Daniela, Stojanov Done

Abstract excerpt

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 silico analysis, which enables a detailed assessment of variants' impact, despite limited clinical evidence. In particular, the G403R substitution, next to...

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PMID: 40403510
DOI: 10.1016/j.mrfmmm.2025.111907

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PROC

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