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#616878 - METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN
Cytogenetic locations: 20q13.33
Gene summaries Genetic tests Medical literature
*616830 - TRANSPORT AND GOLGI ORGANIZATION 2 HOMOLOG; TANGO2
*613203 - DNA REPLICATION AND SISTER CHROMATID COHESION 1; DSCC1
Cytogenetic locations: 19907496
*602724 - SEPTIN 5; SEPT5
PNUTL1/MLL FUSION GENE, INCLUDED
Cytogenetic locations: {Nicotine
*602101 - CLAUDIN 5; CLDN5
Cytogenetic locations: 19192844
*601273 - CLATHRIN, HEAVY POLYPEPTIDE-LIKE 1; CLTCL1
Cytogenetic locations: 19478182
*600237 - HISTONE CELL CYCLE REGULATOR; HIRA
Cytogenetic locations: 15621527
#188400 - DIGEORGE SYNDROME; DGS
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
Cytogenetic locations: 14585638
*118955 - CLATHRIN, HEAVY POLYPEPTIDE; CLTC
CLTC/TFE3 FUSION GENE, INCLUDED
Cytogenetic locations: 11532990
*108746 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E1
Cytogenetic locations: 28250920
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