Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.V281L
Back to variants list

HP

NM_005143.5:p.V281L

Associated Papers

Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.

Karaoğlan M et al.

Journal of Endocrinological Investigation, 2021

The prevalence of 21-hydroxylase deficiency in adrenal incidentalomas - hormonal and mutation screening.

Wagnerova H et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2008

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

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."