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A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic

Beria Sönmez1, Mehmet Kocabey2, Ayşe İpek Polat3

  • 1Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

Molecular Syndromology
|February 6, 2025
PubMed
Abstract

Keywords:
KLHL40Nemaline myopathySplice region variant

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