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P452: Male non-lethal FLNA phenotypes: Medical and counseling challenges by Yanli Wang, Renee Wright, Livija Medne, Beth Keena, Elaine Zackai, Cara Skraban, Francis Jeshira Reynoso Santos
Published 2025-01-01Get full text
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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 by Erica Schindewolf, Gonench Kilich, Kathleen Sullivan, Rebecca Ganetzky, Kelly Hassey, Kelly Mauer, Christopher Breen, Tanaya Jadhav, Adeline Vanderver, Cara Skraban, Ramakrishnan Rajagopalan
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