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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCH1

Variant:p.Q417delFs

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PTCH1

NM_000264.5:p.Q417delFs

hg38:chr9:95478152 TG>T

Associated Papers

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Durmaz CD et al.

Cytogenetic and Genome Research, 2018

29544218 (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."