Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L142V
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HBB

NM_000518.5:p.L142V

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-HBB

A new high affinity variant Hb Aurillac (β141Leu→Val).

Boursier G et al.

Hemoglobin, 2013

Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: a new high oxygen affinity variant.

Oliveira JL et al.

Hemoglobin, 2010

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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."