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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIAH1

Variant:p.F96L

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SIAH1

NM_003031.4:p.F96L

hg38:chr16:48362143 A>G

Associated Papers

A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.

Zheng H et al.

Frontiers in Neuroscience, 2025

41574050 (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."