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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FSD1L

Variant:p.T346Fs

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FSD1L

NM_001287191.2:p.T346Fs

hg38:chr9:105534569 AC>A

Associated Papers

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

Lin S et al.

American Journal of Human Genetics, 2026

41720099 (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."