Associated Papers
Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.
Kumar A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Cappuccio G et al.
Human Mutation, 2021
Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine.
Sirokha D et al.
Clinical Case Reports, 2021
Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.
Peng Y et al.
Frontiers in Endocrinology, 2021
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.
Batista RL et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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