Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.A1044insFs
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PTCH1

NM_000264.5:p.A1044insFs

Associated Papers

Hedgehog signaling is synergistically enhanced by nutritional deprivation and ligand stimulation in human fibroblasts of Gorlin syndrome.

Mizuochi H et al.

Biochemical and Biophysical Research Communications, 2015

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Takahashi C et al.

Journal of Human Genetics, 2009

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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."