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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APTX

Variant:p.R199delFs

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APTX

NM_001195248.2:p.R199delFs

hg38:chr9:32984804 AC>A

Associated Papers

Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?

Prasad G P et al.

Journal of Human Genetics, 2025

40835733 (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."