Varaico: Literature-Extracted Genetic Variants

Gene:RTN4IP1
Variant:p.S167F
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RTN4IP1

NM_032730.5:p.S167F

Associated Papers

RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.

Oláhová M et al.

The Embo Journal, 2025

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."