Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits (Q64039600)

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2 May 2020

title

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits (English)

1 reference

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object of statement has role

2 May 2020

main subject

rare disease

subject heading

object named as

structural homology

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object of statement has role

structural homology

subject heading

object named as

structural homology

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Fanconi syndrome

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glucose transporter, type 2

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mutation

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1 reference

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30950137%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Kathleen Giacomini

5

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2 May 2020

author name string

Osatohanmwen J Enogieru

1

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2 May 2020

Peter M U Ung

2

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2 May 2020

Avner Schlessinger

4

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2 May 2020

language of work or name

English

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publication date

25 April 2019

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2 May 2020

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2 May 2020

volume

40

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2 May 2020

issue

7

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2 May 2020

page(s)

983-995

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Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family

2 May 2020

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