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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACSL4

Variant:p.I30K

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ACSL4

NM_001318510.2:p.I30K

hg38:chrX:109683275 A>T

Associated Papers

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

Uner OE et al.

Ophthalmic Genetics, 2025

39763288 (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."