Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.Q40H
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HBB

NM_000518.5:p.Q40H

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

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

Cai WJ et al.

Hemoglobin, 2014

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