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Updated: Feb 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case

C Méjécase1, S Mohand-Saïd1,2, S El Shamieh1,3

  • 1Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

Clinical Genetics
|November 10, 2017
PubMed

Keywords:
REEP6nonsense variantrod-cone dystrophywhole exome sequencing

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