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10.1002/mgg3.70119

http://scihub22266oqcxt.onion/10.1002/mgg3.70119
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40642871!ä!40642871

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suck abstract from ncbi


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pmid40642871      Mol+Genet+Genomic+Med 2025 ; 13 (7): e70119
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  • Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options #MMPMID40642871
  • Ballerini A; Girolami F; Gozzini A; Passantino S; Zampieri M; Marchi A; Tomberli A; Calabri GB; Spaziani G; Porcedda G; Bennati E; Favilli S; Olivotto I
  • Mol Genet Genomic Med 2025[Jul]; 13 (7): e70119 PMID40642871show ga
  • Pediatric cardiomyopathies are rare, heterogeneous, and challenging conditions, often with a genetic etiology. We estimated the yield of genetic testing in a pediatric cohort with cardiomyopathies and evaluated the potential candidacy to current or emerging treatments based on genetic results. Over one-third had a conclusive genetic test, including 25% of potential candidates for emerging precision therapies or developing pharmacological options.
  • |*Cardiomyopathies/genetics/diagnosis/therapy[MESH]
  • |*Genetic Testing/statistics & numerical data/methods[MESH]
  • |Adolescent[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Female[MESH]
  • |Humans[MESH]
  • |Infant[MESH]


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