Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.Q1005P
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UBE3B

NM_130466.4:p.Q1005P

Associated Papers

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

Yilmaz R et al.

American Journal of Medical Genetics. Part A, 2018

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
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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."