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簡(jiǎn)要描述：This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
產(chǎn)品型號(hào)：bsm-63238R廠商性質(zhì)：生產(chǎn)廠家更新時(shí)間：2025-03-05訪 問 量： 337產(chǎn)品分類
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