Article
Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis.
The Journal of clinical endocrinology and metabolism - 21 Dec 2023
Ramos Raquel Martinez, Petroli Reginaldo José, D'Alessandre Nathália Da Roz, Guardia Gabriela Der Agopian, Afonso Ana Caroline de Freitas, Nishi Mirian Yumie, Domenice Sorahia, Galante Pedro Alexandre Favoretto, Mendonca Berenice Bilharinho, Batista Rafael Loch
Abstract excerpt
CONTEXT: Despite high abundance of small indels in human genomes, their precise roles and underlying mechanisms of mutagenesis in Mendelian disorders require further investigation. OBJECTIVE: To profile the distribution, functional implications, and mechanisms of small indels in the androgen receptor (AR) gene in individuals with androgen insensitivity syndrome (AIS). METHODS: We conducted a systematic review of...
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