Varaico: Literature-Extracted Genetic Variants

Gene:IDH3A
Variant:p.M313T
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IDH3A

NM_005530.3:p.M313T

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1

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."