Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H147D
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HBB

NM_000518.5:p.H147D

Associated Papers

High-Oxygen-Affinity Hemoglobins-Case Series and Review of the Literature.

Komninaka V et al.

Journal of Clinical Medicine, 2024

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

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.

Tamura S et al.

Internal Medicine (tokyo, Japan), 2015

Structural mechanism for coordination of proofreading and polymerase activities in archaeal DNA polymerases.

Kuroita T et al.

Journal of Molecular Biology, 2005

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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."