Varaico: Literature-Extracted Genetic Variants

Gene:HBG1
Variant:p.T85T
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HBG1

NM_000559.3:p.T85T

Associated Papers

A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation.

Singha K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.

Singha K et al.

Scientific Reports, 2023

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Kircher M et al.

Nature Communications, 2019

31395865 (PubMed )
Supplement: 41467_2019_11526_MOESM1_ESM.pdf

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Giardine B et al.

Nature Genetics, 2011

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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."