Associated Papers
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
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
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.
Stojanov IJ et al.
The American Journal of Surgical Pathology, 2020
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG et al.
Molecular Genetics & Genomic Medicine, 2018
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
24204797 (PubMed )
Supplement: pone.0077305.s001.docx
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
Takahashi C et al.
Journal of Human Genetics, 2009
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
Minami M et al.
Journal of Dermatological Science, 2001
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