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 - Top-Institutions - 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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Top Institutions in Neurology

Brief introduction explaining scope and methodology.

  • #1

    Ankara University Medical School
    Ankara University Medical School

    Ankara, Turkey

    Key Differentiators

    • Neurology

  • #2

    Bilkent University
    Bilkent University

    Ankara, Turkey

    Key Differentiators

    • Neurology

  • #3

    Yale University
    Yale University

    New Haven, Connecticut

    Key Differentiators

    • Neurology

  • #4

    Columbia University
    Columbia University

    New York, New York

    Key Differentiators

    • Neurology

  • #5

    NY Genome Center
    NY Genome Center

    New York, New York

    Key Differentiators

    • Genomics
    • Neurology

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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