Associated Papers
A practical framework for predicting splicing single nucleotide variants in exome sequencing.
Utsuno Y et al.
Nar Genomics and Bioinformatics, 2025
RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.
Gupta PR et al.
Ophthalmic Genetics, 2024
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
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Rajabian F et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2021
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
Zou XH et al.
Journal of Molecular Neuroscience : Mn, 2019
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