Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.K836fs
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UBE3A

NM_130838.4:p.K836fs

Associated Papers

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

Akbari V et al.

Journal of Medical Genetics, 2024

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Du X et al.

Genes, 2022

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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."