Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q95*
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PTCH1

NM_000264.5:p.Q95*

Associated Papers

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

Kolkiran A et al.

Molecular Syndromology, 2024

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Fang X et al.

Journal of Cellular and Molecular Medicine, 2020

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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."