KEGG   VARIANT: 5727v1
Entry
5727v1                      Variant                                

Name
PTCH1 mutation
Gene
PTCH1  patched 1 [KO:K06225]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R704*
ClinVar: 409162
dbSNP: rs766313615
Reference
  Authors
Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI
  Title
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.
  Journal
Nat Genet 48:398-406 (2016)
DOI:10.1038/ng.3525
Reference
  Authors
Pandolfi S, Stecca B
  Title
Cooperative integration between HEDGEHOG-GLI signalling and other oncogenic pathways: implications for cancer therapy.
  Journal
Expert Rev Mol Med 17:e5 (2015)
DOI:10.1017/erm.2015.3
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