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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCHD1

Variant:p.R458K

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PTCHD1

NM_173495.3:p.R458K

hg38:chrX:23392891 G>A

Associated Papers

Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.

Luo S et al.

Brain : a Journal of Neurology, 2025

39969241 (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."