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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FSD1L

Variant:p.D456H

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FSD1L

NM_001145313.3:p.D456H

hg38:chr9:105535306 G>C

Associated Papers

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Serpieri V et al.

American Journal of Human Genetics, 2026

41720098 (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."