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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCH1

Variant:p.G91C

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PTCH1

NM_000264.5:p.G91C

hg38:chr9:95506530 C>A

Associated Papers

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

de Koning MA et al.

European Journal of Human Genetics : Ejhg, 2025

40841822 (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."