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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL17

Variant:p.D7delFs

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RPL17

NM_001035006.5:p.D7delFs

hg38:chr18:49491551 GT>G

Associated Papers

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

Ichimura T et al.

International Journal of Hematology, 2017

27882484 (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."