Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E254_V255Splc
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PTCH1

NM_001083605.3:p.E254_V255Splc

Associated Papers

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Davidson AL et al.

Genome Medicine, 2023

37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4

Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.

Hasan Ali O et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.pdf
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