Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K100_L101Splc
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HBA1

NM_000558.5:p.K100_L101Splc

Associated Papers

Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.

Scheps KG et al.

European Journal of Haematology, 2018

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].

Scheps KG et al.

Hemoglobin, 2013

Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser].

Scheps KG et al.

Hemoglobin, 2012

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