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    P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype

    P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype by Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher

    Published 2024-01-01
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