Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.K59fs
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AP3B1

NM_003664.5:p.K59fs

Associated Papers

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Hebert A et al.

Elife, 2022

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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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."