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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDH3A

Variant:p.M204I

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IDH3A

NM_005530.3:p.M204I

hg38:chr15:78162368 G>C

Associated Papers

A novel variant in IDH3A identified in a case with Leber congenital amaurosis accompanied by macular pseudocoloboma.

Sun W et al.

Ophthalmic Genetics, 2018

30058936 (PubMed )

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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."