Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.L482H
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GPI

NM_000175.5:p.L482H

Associated Papers

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Basel-Vanagaite L et al.

Human Genetics, 2014

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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."