Varaico: Literature-Extracted Genetic Variants

Gene:RPS12
Variant:p.I77M
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RPS12

NM_001016.4:p.I77M

Associated Papers

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D et al.

Blood Cells, Molecules & Diseases, 2012

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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."