Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E131K
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PTCH1

NM_000264.5:p.E131K

Associated Papers

Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related Metastases.

Harms KL et al.

Jama Dermatology, 2017

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.

Ma G et al.

Cell Research, 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."