Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.N103K
Back to variants list

HBB

NM_000518.5:p.N103K

Associated Papers

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

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D et al.

Hemoglobin, 2016

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].

Cai WJ et al.

Hemoglobin, 2014

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."