Associated Papers
Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".
Roucher-Boulez F et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A et al.
Journal of the Endocrine Society, 2019
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Goursaud C et al.
Frontiers in Endocrinology, 2018
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