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    P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis

    P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis by Erica Schindewolf, Gonench Kilich, Kathleen Sullivan, Rebecca Ganetzky, Kelly Hassey, Kelly Mauer, Christopher Breen, Tanaya Jadhav, Adeline Vanderver, Cara Skraban, Ramakrishnan Rajagopalan

    Published 2025-01-01
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