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#185000 - OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHST
Cytogenetic locations: 25637754
Gene summaries Genetic tests Medical literature
*601620 - T-BOX TRANSCRIPTION FACTOR 5; TBX5
Cytogenetic locations: 620863
#248600 - MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A
Cytogenetic locations: 610749, 610749, 1p36
*147450 - SUPEROXIDE DISMUTASE 1; SOD1
Cytogenetic locations: 10735277
*611153 - XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
Cytogenetic locations: 605835
*176300 - TRANSTHYRETIN; TTR
Cytogenetic locations: 19547003
#219800 - CYSTINOSIS, NEPHROPATHIC; CTNS
CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED
Cytogenetic locations: 17442733
*300275 - NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL
Cytogenetic locations: 300776
*601902 - ORIGIN RECOGNITION COMPLEX, SUBUNIT 1; ORC1
Cytogenetic locations: Doublesex-
*300560 - PHD FINGER PROTEIN 8; PHF8
Cytogenetic locations: mutation
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