Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.K811Splc
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UBR1

NM_174916.3:p.K811Splc

Associated Papers

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Atik T et al.

Gene, 2015

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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."