Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.R103insFs
Back to variants list

CYP21A2

NM_000500.9:p.R103insFs

Associated Papers

Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

Nordenström A et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.

Kjellman M et al.

Clinical Endocrinology, 1999

Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.

Cisternino M et al.

Clinical Endocrinology, 1998

Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.

Chang SF et al.

Genetic Testing and Molecular Biomarkers, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."