Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.L1104insFs
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PTCH2

NM_003738.5:p.L1104insFs

Associated Papers

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Brohl AS et al.

Genetics in Medicine : Official Journal of the American College 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."