Varaico: Literature-Extracted Genetic Variants

Gene:ERFE
Variant:p.A260S
Back to variants list

ERFE

NM_001291832.2:p.A260S

Associated Papers

Deciphering the role of hepcidin in iron metabolism and anemia management.

Kesharwani P et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2025

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.

Russo R et al.

International Journal of Laboratory Hematology, 2024

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM1_ESM.pdf

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Ravasi G et al.

Genes, 2021

34828384 (PubMed )
Supplement: genes-12-01778-s001.zip › genes-1451461-supplementary.pdf

HIF1A: A Putative Modifier of Hemochromatosis.

Pelucchi S et al.

International Journal of Molecular Sciences, 2021

Low HbA1c With Normal Hemoglobin in a Diabetes Patient Caused by PIEZO1 Gene Variant: A Case Report.

Song A et al.

Frontiers in Endocrinology, 2020

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.

Russo R et al.

Frontiers in Physiology, 2020

The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.

Andolfo I et al.

American Journal of Hematology, 2019

Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study.

Kim HK et al.

Integrative Medicine Research, 2017

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."