Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.*405L
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UBA5

NM_024818.6:p.*405L

Associated Papers

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Issa MY et al.

American Journal of Medical Genetics. Part A, 2024

PEHO syndrome: the endpoint of different genetic epilepsies.

Chitre M et al.

Journal of Medical Genetics, 2018

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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."