Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L87del1
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PTCH1

NM_000264.5:p.L87del1

Associated Papers

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

Boutet N et al.

The Journal of Investigative Dermatology, 2003

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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."