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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBA2

Variant:p.L7fs

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UBA2

NM_005499.3:p.L7fs

hg38:chr19:34428451 CTG>N

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

40073198 (PubMed )

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