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    Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family

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    • Institution:基础医学院

    • Title of Paper:Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family

    • Journal:HUMAN MUTATION

    • Key Words:hereditary spastic paraplegias (HSP);exome sequencing;SLC33A1;mutation

    • First Author:毛飞

    • Document Code:1417758539073458177

    • Issue:0

    • Page Number:240-249

    • Number of Words:4

    • Translation or Not:No

    • Date of Publication:2015-08

    • Release Time:2022-12-22
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