Varaico: Literature-Extracted Genetic Variants

Gene:RTN4IP1
Variant:p.R103C
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RTN4IP1

NM_032730.5:p.R103C

Associated Papers

Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.

Jurkute N et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023

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

Aldosary M et al.

Cells, 2022

36231115 (PubMed )
Supplement: cells-11-03154-s001.zip › cells-1898025-supplementary.pdf
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