Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Berardinelli-Seip congenital lipodystrophy (seipin)


Symbol BSCL2
Aliases GNG3LG, SEIPIN, MGC4694
Location 11q12-q13.5
GDB Entry 9963996
OMIM Citation 606158
cDNA Sequence NM_032667 ;
Protein Sequence SwissProt
NCBI PID 40068505
Entrez Gene 26580
BSCL2 Mutations


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