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Home > Publications

A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor

Authors Onur Emre Onat, Shilpa Sonti, Daphne Robakis, Ayse B Tekinay, Cenk Akbostanci, F Nazli Durmaz Celik, Tayfun Ozcelik, Lorraine N Clark
DOI 10.3389/fneur.2026.1796664
Topics
  • Neurology
Tags
  • Nuclear speckles
Source View on PubMed
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