Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.V510F
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PTCH1

NM_000264.5:p.V510F

Associated Papers

The energetics and ion coupling of cholesterol transport through Patched1.

Ansell TB et al.

Science Advances, 2023

The Energetics and Ion Coupling of Cholesterol Transport Through Patched1.

Ansell TB et al.

Biorxiv : the Preprint Server for Biology, 2023

Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

Vidra R et al.

International Journal of Environmental Research and Public Health, 2022

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

Slade I et al.

Familial Cancer, 2011

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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."