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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BPTF

Variant:p.R95fs

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BPTF

NM_182641.4:p.R95fs

hg38:chr17:67826007 CGA>N

Associated Papers

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.

Ferretti A et al.

Pediatric Neurology, 2025

40614698 (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."