Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.C319fs
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GATA2

NM_032638.5:p.C319fs

Associated Papers

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Stoltze UK et al.

Genome Medicine, 2023

36918911 (PubMed )
Supplement: 13073_2023_1167_MOESM2_ESM.xlsx › Table_S4_LoFP_variants

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

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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."