Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.G538R
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PTCH1

NM_000264.5:p.G538R

Associated Papers

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Knarston IM et al.

Human Mutation, 2019

30350900 (PubMed )
Supplement: HUMU-40-207-s001.pdf

First evidence of genotype-phenotype correlations in Gorlin syndrome.

Evans DG et al.

Journal of Medical Genetics, 2017

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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."