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FLASH GENE

Symbol

SPTBN1

contributors: mct - updated : 18-08-2012

HGNC name	spectrin, beta, non-erythrocytic 1
HGNC id	11275

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ANIMAL & CELL MODELS

beta2SP(+/-) mice are born with many phenotypic characteristics observed in BWS patients, suggesting that beta2SP mutant mice phenocopy BWS, and beta2SP loss could be one of the mechanisms associated with BWS (Beckwith-Wiedemann syndrome)