Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.Q210_I211Splc
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UBE3B

NM_130466.4:p.Q210_I211Splc

Associated Papers

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Albakheet A et al.

Clinical Dysmorphology, 2024

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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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."