Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L29Q
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HBB

NM_000518.5:p.L29Q

Associated Papers

First Chinese Patient with Hemoglobin Saint Louis Leading to Chronic Hemolysis and Congenital Methemoglobinemia: A Case Report.

Wu SM et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

The first Chinese with Hb Chile leading to chronic anemia and methemoglobinemia: a case report.

Gong Y et al.

Bmc Pediatrics, 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 phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

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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."