Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.Q581*
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ALAS2

NM_000032.5:p.Q581*

Associated Papers

[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

An WB et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Tchaikovskii V et al.

Molecular Medicine (cambridge, Mass.), 2019

Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.

Bishop DF et al.

Molecular Medicine (cambridge, Mass.), 2013

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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."