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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL13

Variant:p.N159_V160ins1

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RPL13

NM_000977.4:p.N159_V160ins1

hg38:chr16:89562389 A>ANNN

Associated Papers

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Jacob P et al.

Npj Genomic Medicine, 2023

37993442 (PubMed )

Supplement: 41525_2023_380_MOESM2_ESM.pdf

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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."