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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS7

Variant:p.V170fs

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RPS7

NM_001011.4:p.V170fs

hg38:chr2:3580805 GTT>N

Associated Papers

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

Akram T et al.

International Journal of Hematology, 2020

32772263 (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."