Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. (Q50480164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta (English)

1 reference

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26 March 2020

main subject

osteogenesis imperfecta

0 references

1 reference

Meena Balasubramanian

1

1 reference

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26 March 2020

Winston Hide

18

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26 March 2020

Timothy M. Skerry

19

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26 March 2020

S Brown

3

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26 March 2020

Rebecca C Pollitt

7

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26 March 2020

Javier Caceres

10

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26 March 2020

Amaka C. Offiah

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26 March 2020

author name string

J Hurst

2

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26 March 2020

N J Bishop

4

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26 March 2020

P Arundel

5

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26 March 2020

C DeVile

6

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26 March 2020

L Crooks

8

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26 March 2020

D Longman

9

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26 March 2020

F Shackley

11

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26 March 2020

S Connolly

12

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26 March 2020

J H Payne

13

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26 March 2020

D Hughes

15

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26 March 2020

DDD Study

16

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26 March 2020

M J Parker

17

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26 March 2020

publication date

24 October 2016

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26 March 2020

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26 March 2020

volume

94

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26 March 2020

page(s)

65-74

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Mechanism and regulation of the nonsense-mediated decay pathway

26 March 2020

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1 reference

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5 October 2018

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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

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Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

5 October 2018

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DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans

5 October 2018

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New genes in bone development: what's new in osteogenesis imperfecta

5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

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5 October 2018

Osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27789416

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BONE.2016.10.023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27789416%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference