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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STEAP3

Variant:p.C100*

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STEAP3

NM_018234.3:p.C100*

hg38:chr2:119245796 C>A

Associated Papers

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

Grandchamp B et al.

Blood, 2011

22031863 (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."