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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBC

Variant:p.R682K

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UBC

NM_021009.7:p.R682K

hg38:chr12:124911727 C>T

Associated Papers

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Costantini A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

32916022 (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."