Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L1047fs
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PTCH1

NM_000264.5:p.L1047fs

Associated Papers

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 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."