Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S985*
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PTCH1

NM_000264.5:p.S985*

Associated Papers

Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.

Gianferante DM et al.

Molecular Genetics & Genomic Medicine, 2018

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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."