Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
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SUBMITTER: Bruno LP
PROVIDER: S-EPMC10092205 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Bruno Lucia Pia LP Doddato Gabriella G Baldassarri Margherita M Rizzo Caterina Lo CL Resciniti Sara S Bruttini Mirella M Mirjam Lista L Zguro Kristina K Furini Simone S Mencarelli Maria Antonietta MA Renieri Alessandra A Ariani Francesca F
American journal of medical genetics. Part A 20221009 1
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