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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCH1

Variant:p.L86L

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PTCH1

NM_000264.5:p.L86L

hg38:chr9:95506543 G>A

Associated Papers

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.

Stefanius K et al.

Virchows Archiv : an International Journal of Pathology, 2011

21234763 (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."