Properties

MORBIDMAP :NAME MM: Nijmegen breakage syndrome :MORBID_ID 251260 :NUM 3 :SYM (NBS1 NBS) :LOCUS 8q21.3 :OMIM_ID 602667 :SNP NIJMEGEN BREAKAGE SYNDROME; NBN, GLN326TER; rs121908973 NIJMEGEN BREAKAGE SYNDROME; NBN, TYR363TER; rs121908974 NIJMEGEN BREAKAGE SYNDROME; NBN, ARG215TRP; rs34767364 :AAUSHI NIJMEGEN_BREAKAGE_SYNDROME :AAUSHIGENE NIBRIN