Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.L1592H
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ATRX

NM_000489.6:p.L1592H

Associated Papers

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts.

Conte S et al.

British Journal of Haematology, 2015

26255870 (PubMed )
Supplement: BJH-171-478-s001.pdf
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