Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.W16fs
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HBB

NM_000518.5:p.W16fs

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

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

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Simultaneous detection of target CNVs and SNVs of thalassemia by multiplex PCR and next‑generation sequencing.

Fan DM et al.

Molecular Medicine Reports, 2019

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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."