Varaico: Literature-Extracted Genetic Variants

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

SUCO

NM_014283.5:p.V281L

Associated Papers

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Marino R et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.

Karaoglan M

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.

Neocleous V et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

New MI et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.

Ravichandran L et al.

Indian Journal of Endocrinology and Metabolism, 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."