Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.G854Splc
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PTCH1

NM_000264.5:p.G854Splc

Associated Papers

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM et al.

The Lancet. Oncology, 2018

29753700 (PubMed )
Supplement: mmc1.pdf

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG 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."