Varaico: Literature-Extracted Genetic Variants

Gene:IDH3A
Variant:p.E229K
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IDH3A

NM_005530.3:p.E229K

Associated Papers

Isocitrate dehydrogenase 3b is required for spermiogenesis but dispensable for retinal viability.

Zhu S et al.

The Journal of Biological Chemistry, 2022

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Peter VG et al.

Ophthalmic Genetics, 2019

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

Findlay AS et al.

Disease Models & Mechanisms, 2018

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Pierrache LHM et al.

Ophthalmology, 2017

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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."