References

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

10.1016/s2665-9913(19)30142-0 · 2020 · External reference

Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus

10.1136/lupus-2024-001475 · 2025 · External reference

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

10.1186/s13073-021-00965-0 · 2021 · External reference

Unresolved reference

External reference

10.1016/j.ajhg.2008.09.017

10.1016/j.ajhg.2008.09.017 · External reference

Unresolved reference

External reference

10.1038/gim.2015.30

10.1038/gim.2015.30 · External reference

Unresolved reference

External reference

Unresolved reference

External reference

Unresolved reference

External reference

10.1016/j.gene.2024.148279

10.1016/j.gene.2024.148279 · External reference

Rare variants: data types and analysis strategies

10.21037/atm-21-1635 · 2021 · External reference

Unresolved reference

External reference

A novel splice acceptor site mutation (IVS11 G > A) of PEPD gene causing prolidase deficiency associated with hyperimmunoglobulinemia E

10.1016/j.genrep.2016.02.008 · 2016 · External reference

10.1016/j.bcmd.2010.07.012

10.1016/j.bcmd.2010.07.012 · External reference

Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study

10.1007/s00296-024-05696-0 · 2024 · External reference

Phenotypic variability including Behçet’s disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation

2019 · External reference

Unresolved reference

External reference

10.1016/j.gim.2023.100830

10.1016/j.gim.2023.100830 · External reference