Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.I1056_V1057Splc
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PTCH1

NM_000264.5:p.I1056_V1057Splc

Associated Papers

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

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Pastorino L et al.

Human Mutation, 2005

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Savino M et al.

Human Mutation, 2004

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