Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L427R
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PTCH1

NM_000264.5:p.L427R

Associated Papers

Structural basis for itraconazole-mediated NPC1 inhibition.

Long T et al.

Nature Communications, 2020

Two Patched molecules engage distinct sites on Hedgehog yielding a signaling-competent complex.

Qi X et al.

Science (new York, N.y.), 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."