Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.L223P
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UBB

NM_018955.4:p.L223P

Associated Papers

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).

Li Y et al.

Journal of Clinical Immunology, 2023

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

Gow A et al.

Nature Genetics, 1996

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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."