Varaico: Literature-Extracted Genetic Variants

Gene:RPS7
Variant:p.K49_E50Splc
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RPS7

NM_001011.4:p.K49_E50Splc

Associated Papers

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

Gerrard G et al.

British Journal of Haematology, 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."