Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.C276_I278del3
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ALAS2

NM_000032.5:p.C276_I278del3

Associated Papers

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.

Lichtenstein DA et al.

Blood, 2016

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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."