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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCH1

Variant:p.Q417_K418insA

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PTCH1

NM_000264.5:p.Q417_K418insA

hg38:chr9:95478153 G>GNNN

Associated Papers

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

Alonso N et al.

The British Journal of Dermatology, 2018

28733979 (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."