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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL4

Variant:p.G59Splc

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RPL4

NM_000968.4:p.G59Splc

hg38:chr15:66503171 T>C

Associated Papers

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

Jongmans MCJ et al.

Haematologica, 2018

30213830 (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."