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c.788-792?del/ins: p.Ile264fs*?: Truncation

c.1-?_6030+?del: Whole gene deletion

c.1-?_6030+?disrupt: Others

c.1-?_6030+?del: Whole gene deletion

c.4058?-4061?del/dup: p.Cys1354Phefs*6/p.Cys1354Trpfs*25: Truncation

c.1-?_6030+?del: Whole gene deletion

c.1-?_6030+?del: Whole gene deletion

c.3696del22insG?: p.Leu1235fs*1243?: Truncation


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Fukuoka University
Fukuoka University

希少てんかん症候群登録システム RES-R
Rare Epilepsy Syndrome
Registration System

きよくん基金を募る会(SMEの研究治療を進める会)
KIYO FUND
(A support society for SME research)
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