Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L33P
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HBB

NM_000518.5:p.L33P

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-Full_dataset

Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant.

Hsu CH et al.

Hemoglobin, 2018

Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China.

Jiang H et al.

Hemoglobin, 2016

[Gene diagnosis and carrier detection of hemophilia B by using genomic amplification with transcripts sequencing].

Liu J et al.

Zhonghua Yi Xue Za Zhi, 1995

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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."