We hypothesize that the novel TP63 variant carried by our patients, leading to the production of truncated p63 lacking the ΔN region, an important functional domain, is unable to exert its normal regulatory function in the normal transformation of uterine cervix epithelium.
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia
Sabrina GiglioMembro del Collaboration Group
;
2021-01-01
Abstract
We hypothesize that the novel TP63 variant carried by our patients, leading to the production of truncated p63 lacking the ΔN region, an important functional domain, is unable to exert its normal regulatory function in the normal transformation of uterine cervix epithelium.
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2020-A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia.pdf
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