Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.S860T
Back to variants list

HRNR

NM_001009931.3:p.S860T

Associated Papers

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Arias-Pérez RD et al.

Bmc Medical Genomics, 2021

34039366 (PubMed )
Supplement: 12920_2021_987_MOESM1_ESM.docx

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.

Sandling JK et al.

Annals of the Rheumatic Diseases, 2021

33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result
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."