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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBA2

Variant:p.V452delFs

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UBA2

NM_005499.3:p.V452delFs

hg38:chr19:34458875 CTG>C

Associated Papers

Genome sequencing in families with congenital limb malformations.

Elsner J et al.

Human Genetics, 2021

34159400 (PubMed )

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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."