Varaico: Literature-Extracted Genetic Variants

Gene:APBA3
Variant:p.H212Y
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APBA3

NM_004886.4:p.H212Y

Associated Papers

In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.

Zhu W et al.

Clinical and Translational Medicine, 2023

36627765 (PubMed )
Supplement: CTM2-13-e1007-s001.pdf
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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."