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You are viewing an old version of this page that was saved on February 9, 2010 at 9:48am by Abraham Rosenbaum.
Edited in this revision:
This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. See G57E.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:54531242