Varaico: Literature-Extracted Genetic Variants

Gene:UBE3B
Variant:p.M1V
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UBE3B

NM_130466.4:p.M1V

Associated Papers

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Pedurupillay CR et al.

American Journal of Medical Genetics. Part A, 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."