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Properties
MORBIDMAP
:NAME MM: Biotinidase deficiency
:MORBID_ID 253260
:NUM 3
:SYM (BTD)
:LOCUS 3p25.1
:OMIM_ID 609019
:SNP BIOTINIDASE DEFICIENCY; BTD, 7-BP DEL/3-BP INS; rs80338684
BIOTINIDASE DEFICIENCY; BTD, ARG538CYS; rs80338686
BIOTINIDASE DEFICIENCY; BTD, GLY34SER; rs119103232
BIOTINIDASE DEFICIENCY; BTD, ALA171THR AND ASP444HIS; rs13073139
BIOTINIDASE DEFICIENCY; BTD, ASP252GLY; rs28934601
BIOTINIDASE DEFICIENCY; BTD, GLN456HIS; rs80338685
BIOTINIDASE DEFICIENCY; BTD, ASN489THR; rs104893692
BIOTINIDASE DEFICIENCY; BTD, PHE403VAL AND ASP444HIS; rs104893686
BIOTINIDASE DEFICIENCY; BTD, ARG79CYS; rs104893687
BIOTINIDASE DEFICIENCY; BTD, THR532MET; rs104893688
:AAUSHI BIOTINIDASE_DEFICIENCY
:AAUSHIGENE BIOTINIDASE