Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L564*
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PTCH1

NM_000264.5:p.L564*

Associated Papers

Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.

Verkouteren BJA et al.

Neuro-oncology, 2021

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.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."