Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L106V
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HBB

NM_000518.5:p.L106V

Associated Papers

A Novel β-Globin Variant, Hb Odder [HBB: C.316C > G; CD105 (Leu > Val)].

Gravholt EAE et al.

Hemoglobin, 2024

Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.

Das R et al.

Journal of Proteome Research, 2013

23692286 (PubMed )
Supplement: pr4000625_si_001.pdf

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

Jiang C et al.

Human Molecular Genetics, 1997

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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."