Varaico: Literature-Extracted Genetic Variants

Gene:UBA2
Variant:p.Y442delFs
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UBA2

NM_005499.3:p.Y442delFs

Associated Papers

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Schnur RE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."