Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L89P
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HBB

NM_000518.5:p.L89P

Associated Papers

The First Iranian Case of Unstable Hemoglobin Santa Ana.

Alavi S et al.

Hemoglobin, 2024

[Genetic analysis of a child with Hemoglobin Santa Ana].

Liu J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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

The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review.

Du L et al.

Hematology (amsterdam, Netherlands), 2022

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › _4_position
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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."