Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E1019delFs
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PTCH1

NM_000264.5:p.E1019delFs

Associated Papers

Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan.

Fukushima H et al.

Oncology, 2022

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

Nevoid basal cell carcinoma syndrome with a unilateral giant ovarian fibroma in a Japanese 6-year-old girl.

Jimbo T et al.

European Journal of Pediatrics, 2014

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