Varaico: Literature-Extracted Genetic Variants

Gene:UBA2
Variant:p.A12_E13delFs
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UBA2

NM_005499.3:p.A12_E13delFs

Associated Papers

Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family.

Shirodkar AN et al.

Clinical Dysmorphology, 2025

Genome sequencing in families with congenital limb malformations.

Elsner J et al.

Human 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."