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    Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

    Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

    Published 2025-01-01
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  2. 2
    P460: Case series of Nizon-Isidor syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through diploid-triploid mosaicism

    P460: Case series of Nizon-Isidor syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through diploid-triploid mosaicism by Russell Stewart, Kimberly Ezell, Brian Corner, Ashley McMinn, Joy Cogan, Rizwan Hamid, Lynette Rives, John Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Deanna Bell, Sumit Pruthi, Thomas Cassini

    Published 2025-01-01
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