Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S421fs
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PTCH1

NM_000264.5:p.S421fs

Associated Papers

PTCH1 inactivation is sufficient to cause basaloid follicular hamartoma in paediatric Nevoid basal cell carcinoma syndrome.

Blanchard G et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

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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."