Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.G99V
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PTCH1

NM_000264.5:p.G99V

Associated Papers

First evidence of genotype-phenotype correlations in Gorlin syndrome.

Evans DG et al.

Journal of Medical Genetics, 2017

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

Papanikolaou G et al.

Nature Genetics, 2004

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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."