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

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Bibliographic Details
Main Authors: Erica Schindewolf, Gonench Kilich, Kathleen Sullivan, Rebecca Ganetzky, Kelly Hassey, Kelly Mauer, Christopher Breen, Tanaya Jadhav, Adeline Vanderver, Cara Skraban, Ramakrishnan Rajagopalan
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425013895
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