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Mutation Report for: D363G_human-DAGLB

D363G_human-DAGLB
Gene_Locus|human-DAGLB
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.1088A>G (p.D363G) one homozygous missense mutation in achinese family 2 (AR-005)
    Kinetic parameters|none


    References:
      Title: Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction
      Liu Z, Yang N, Dong J, Tian W, Chang L, Ma J, Guo J, Tan J, Dong A and Tang B <27 more author(s)>
      Ref: Nat Commun, 13:3490, 2022 : PubMed

              




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