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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALAS2

Variant:p.Q217*

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ALAS2

NM_000032.5:p.Q217*

hg38:chrX:55020494 G>A

Associated Papers

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI et al.

European Journal of Haematology, 2018

29901818 (PubMed )

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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."