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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

Mazhor Aldosary1, Maysoon Alsagob1,2, Hanan AlQudairy1

  • 1Translational Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), P.O. Box 3354, Riyadh 11211, Saudi Arabia.

Cells
|October 14, 2022
PubMed

Keywords:
RTN4IP1age of variantencephalopathyfounder variantin silico pathogenicity predictionmissenseoptic atrophystructural modeling

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