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Properties
MORBIDMAP
:NAME MM: Mismatch repair cancer syndrome
:MORBID_ID 276300
:NUM 3
:SYM (PMS2 PMSL2 HNPCC4)
:LOCUS 7p22.1
:OMIM_ID 600259
:SNP MISMATCH REPAIR CANCER SYNDROME; PMS2, ARG134TER; rs63750871
MISMATCH REPAIR CANCER SYNDROME; PMS2, ARG802TER; rs63751466
MISMATCH REPAIR CANCER SYNDROME; PMS2, SER46ILE; rs121434629
MISMATCH REPAIR CANCER SYNDROME; PMS2, CYS73TER; rs121434630
:AAUSHI TURCOT_DESPRES_SYNDROME
:AAUSHIGENE PMS2_PROTEIN