Evidence of digenic inheritance in autoinflammation-associated genes.

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Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene.

P2860

Q40057803-E4CDE5D4-18B9-4607-8F3C-B5752F8CF1D6

P2860

Evidence of digenic inheritance in autoinflammation-associated genes.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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Evidence of digenic inheritance in autoinflammation-associated genes.

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type

Item

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Evidence of digenic inheritance in autoinflammation-associated genes.

@en

prefLabel

Evidence of digenic inheritance in autoinflammation-associated genes.

@en

P1476

Evidence of digenic inheritance in autoinflammation-associated genes.

@en

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Christina Kyriakou

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Christos Shammas

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Constantina Costi

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Leonidas A Phylactou

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Meropi Toumba

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Stefania Byrou

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Vassos Neocleous

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Violetta Christophidou-Anastasiadou

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P2860

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.

Clinical disease among patients heterozygous for familial Mediterranean fever.

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

Familial Mediterranean fever associated pyrin mutations in Greece.

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

P2888

s12041-016-0691-5

P304

761-766

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P31

scholarly article

P356

10.1007/S12041-016-0691-5

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

George Tanteles

Adamos Hadjipanayis

P577

2016-12-01T00:00:00Z

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P698

27994174

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Evidence of digenic inheritance in autoinflammation-associated genes.

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P2860

P2860

Evidence of digenic inheritance in autoinflammation-associated genes.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698