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Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

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22 February 2020

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C (English)

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Europe PubMed Central

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22 February 2020

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22 February 2020

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Julie Vogt

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22 February 2020

Shakti Agrawal

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22 February 2020

Zala Ibrahim

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22 February 2020

Sunny Philip

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22 February 2020

Christine Oley

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22 February 2020

Taunton R Southwood

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22 February 2020

Lesley Macpherson

6

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22 February 2020

Malini V Bhole

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22 February 2020

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15 January 2013

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22 February 2020

American Journal of Medical Genetics

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22 February 2020

161A

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22 February 2020

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22 February 2020

338-342

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22 February 2020

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

An autoimmune disease prevented by anti-retroviral drugs

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

RNase H2 of Saccharomyces cerevisiae is a complex of three proteins

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Aicardi-Goutières syndrome: an expanding phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Aicardi-Goutières syndrome (AGS).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35712

21 January 2018

Identifiers

10.1002/AJMG.A.35712

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23322642%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23322642%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

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