Variable phenotypic expression of mutations in genes of the immune system.
about
Genetics of SCIDMonozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007.Primary immunodeficiency diseases: relevant aspects for pulmonologists.Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010-2013).Spectrum of Phenotypes Associated with Mutations in LRBA.A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.The European internet-based patient and research database for primary immunodeficiencies: results 2004-06.
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P2860
Variable phenotypic expression of mutations in genes of the immune system.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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2005年學術文章
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2005年學術文章
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name
Variable phenotypic expression of mutations in genes of the immune system.
@ast
Variable phenotypic expression of mutations in genes of the immune system.
@en
type
label
Variable phenotypic expression of mutations in genes of the immune system.
@ast
Variable phenotypic expression of mutations in genes of the immune system.
@en
prefLabel
Variable phenotypic expression of mutations in genes of the immune system.
@ast
Variable phenotypic expression of mutations in genes of the immune system.
@en
P2860
P356
P1476
Variable phenotypic expression of mutations in genes of the immune system.
@en
P2093
Rebecca H Buckley
P2860
P304
P356
10.1172/JCI26956
P407
P577
2005-11-01T00:00:00Z