Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.M1delFs
Back to variants list

HBB

NM_000518.5:p.M1delFs

Associated Papers

Subtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.

Nguyen HT et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2026

A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis.

Chen W et al.

Hematology (amsterdam, Netherlands), 2025

Screening and Diagnosis of Rare Thalassemia Variants: Is Third-Generation Sequencing Enough?

Tang H et al.

Archives of Pathology & Laboratory Medicine, 2025

Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

Wan Y et al.

Journal of Clinical Laboratory Analysis, 2024

39317177 (PubMed )
Supplement: JCLA-38-e25104-s001.xlsx › Mutations

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.

Tang XW et al.

Annals of Human Genetics, 2023

Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations.

Chen Q et al.

Human Genetics, 2023

Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.

Zhao Y et al.

Hemoglobin, 2020

A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.

Xiong F et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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."