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Irene Valenzuela1, Marta Codina-Solà1, Eduardo F Tizzano1

  • 1Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|January 23, 2026
PubMed
Summary

No abstract available in PubMed .

Keywords:
Neurodevelopmental disorderRNU4-2deep phenotypingdiagnostic criterianon-coding spliceosomal snRNA

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