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suck abstract from ncbi


10.4081/ejtm.2025.14034

http://scihub22266oqcxt.onion/10.4081/ejtm.2025.14034
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40586519!ä!40586519

suck abstract from ncbi


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pmid40586519      Eur+J+Transl+Myol 2025 ; ä (ä): ä
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  • Reply to Before scoliosis can be attributed to the variant c 326G>A in MYH3, its pathogenicity must be proven #MMPMID40586519
  • Maccarone MC; Paramento M; Passarotto E; Contessa P; Rubega M; Formaggio E; Masiero S
  • Eur J Transl Myol 2025[Jun]; ä (ä): ä PMID40586519show ga
  • Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...].
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