Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.A1260P
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LRBA

NM_001364905.1:p.A1260P

Associated Papers

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong D et al.

Scientific Reports, 2022

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

Tang WJ et al.

World Journal of Clinical Cases, 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."