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BSCL2 - Berardinelli-Seip congenital lipodystrophy 2 (seipin)

ORPHA119085
Synonym(s) Bernardinelli-Seip congenital lipodystrophy 2 (seipin), GNG3LG, SPG17
Previous symbols and names spastic paraplegia 17 (Silver syndrome)
Type gene with protein product
Chromosomal location 11q13
OMIM
HGNC 15832
UniProtKB
Genatlas BSCL2
Ensembl ENSG00000168000
IUPHAR-DB -
Reactome -

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 Assessed
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