Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R1206H
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PTCH1

NM_000264.5:p.R1206H

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1

Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome.

Cao R et al.

Dna and Cell Biology, 2020

Histologic, immunohistochemical, and molecular features of pituicytomas and atypical pituicytomas.

Viaene AN et al.

Acta Neuropathologica Communications, 2019

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

Analysis of the PTCH coding region in human rhabdomyosarcoma.

Calzada-Wack J et al.

Human Mutation, 2002

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