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PON-P: Integrated predictor for pathogenicity of missense variants

Human mutation, 2012-08, Vol.33 (8), p.1166-1174

2012

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Immunodeficiency mutation databases (IDbases)

Human mutation, 2006-12, Vol.27 (12), p.1200-1208

2006

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Immunodeficiency mutation databases (IDbases)

Human mutation, 2006-12, Vol.27 (12), p.1200-1208

2006

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BTKbase: the mutation database for X-linked agammaglobulinemia

Human mutation, 2006-12, Vol.27 (12), p.1209-1217

2006

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Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling

Immunological reviews, 2005-02, Vol.203 (1), p.200-215

2005

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Structure-function analysis indicates that sumoylation modulates DNA-binding activity of STAT1

BMC biochemistry, 2012-10, Vol.13 (1), p.20-20, Article 20

2012

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Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase

Human mutation, 2015-06, Vol.36 (6), p.638-647

2015

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BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead

Human mutation, 2023, Vol.2023, p.1-12

2023

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Distribution of immunodeficiency fact files with XML--from Web to WAP

BMC medical informatics and decision making, 2005-06, Vol.5 (1), p.21-21, Article 21

2005

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PhenCode: connecting ENCODE data with mutations and phenotype

Human mutation, 2007-06, Vol.28 (6), p.554-562

2007

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IDR: the ImmunoDeficiency Resource

Nucleic acids research, 2002-01, Vol.30 (1), p.232-234

2002

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Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain

Molecular medicine (Cambridge, Mass.), 2000-03, Vol.6 (3), p.155-164

2000

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KinMutBase: A registry of disease-causing mutations in protein kinase domains

Human mutation, 2005-05, Vol.25 (5), p.435-442

2005

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IDR knowledge base for primary immunodeficiencies

Immunome research, 2007-03, Vol.3 (1), p.6-6

2007

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KinMutBase: A registry of disease-causing mutations in protein kinase domains: KinMutBase

Human mutation, 2005-05, Vol.25 (5), p.435-442

2005

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Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

Human mutation, 1999, Vol.13 (4), p.280-285

1999

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Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics

Journal of Clinical Immunology, 2004-01, Vol.24 (1), p.53-61

2004

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Novel immunodeficiency data servers

Immunological reviews, 2000-12, Vol.178 (1), p.177-185

2000

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The mutational spectrum of human malignant autosomal recessive osteopetrosis

Human molecular genetics, 2001-08, Vol.10 (17), p.1767-1773

2001

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4 Primary immunodeficiency mutation databases

Advances in Genetics, 2001, Vol.43, p.103-188

2001

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PON-P: Integrated predictor for pathogenicity of missense variants

Immunodeficiency mutation databases (IDbases)

Immunodeficiency mutation databases (IDbases)

BTKbase: the mutation database for X-linked agammaglobulinemia

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling

Structure-function analysis indicates that sumoylation modulates DNA-binding activity of STAT1

Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase

BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead

Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants

Distribution of immunodeficiency fact files with XML--from Web to WAP

PhenCode: connecting ENCODE data with mutations and phenotype

IDR: the ImmunoDeficiency Resource

Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain

KinMutBase: A registry of disease-causing mutations in protein kinase domains

V(D)J recombination defects in lymphocytes due to RAG mutations : severe immunodeficiency with a spectrum of clinical presentations

IDR knowledge base for primary immunodeficiencies

KinMutBase: A registry of disease-causing mutations in protein kinase domains: KinMutBase

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics

Novel immunodeficiency data servers

The mutational spectrum of human malignant autosomal recessive osteopetrosis

V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations

4 Primary immunodeficiency mutation databases

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