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 - Quiz - MDSpire

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

  • By

  • Onur Emre Onat

  • Shilpa Sonti

  • Daphne Robakis

  • Ayse B. Tekinay

  • Cenk Akbostanci

  • F. Nazli Durmaz Celik

  • Tayfun Ozcelik

  • Lorraine N. Clark

  • May 26, 2026

  • 0 min

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Original Source(s)

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

  • by Onur Emre Onat, Shilpa Sonti, Daphne Robakis, Ayse B. Tekinay, Cenk Akbostanci, F. Nazli Durmaz Celik, Tayfun Ozcelik, Lorraine N. Clark

  • May 26, 2026

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