Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q501_V502Splc
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PTCH1

NM_000264.5:p.Q501_V502Splc

Associated Papers

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.

Sim YC et al.

The Journal of Craniofacial Surgery, 2018

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

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

Okano Y et al.

Journal of Human Genetics, 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."