Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.P975insFs
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PTCH1

NM_000264.5:p.P975insFs

Associated Papers

A novel truncating mutation of PTCH1 in a Chinese family with Gorlin syndrome.

Liu Q et al.

International Journal of Clinical and Experimental Pathology, 2017

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

Matsuzawa N et al.

Journal of Clinical Pathology, 2006

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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."