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    Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing

    Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing by Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova

    Published 2021-04-01
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  2. 2
    Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the <i>CA5A</i> Gene

    Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the <i>CA5A</i> Gene by Natalia Semenova, Andrey Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova

    Published 2022-11-01
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