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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IMPG1

Variant:p.R614*

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IMPG1

NM_001563.4:p.R614*

hg38:chr6:75947518 G>A

Associated Papers

Multifocal vitelliform lesions associated with mitochondrial retinopathy.

Battaglia Parodi M et al.

American Journal of Ophthalmology Case Reports, 2024

39411423 (PubMed )

Vitelliform maculopathy in MELAS syndrome.

Jahrig C et al.

American Journal of Ophthalmology Case Reports, 2023

37096132 (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."