Varaico: Literature-Extracted Genetic Variants

Gene:RTN4IP1
Variant:p.K201*
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RTN4IP1

NM_032730.5:p.K201*

Associated Papers

RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.

Gupta PR et al.

Ophthalmic Genetics, 2024

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

A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.

Meunier I et al.

Retina (philadelphia, Pa.), 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

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C et al.

American Journal of Human Genetics, 2015

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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."