(Q48255402)

10 February 2018

http://europepmc.org/abstract/MED/25823418

title

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. (English)

1 reference

10 February 2018

http://europepmc.org/abstract/MED/25823418

author

Slavé Petrovski

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

C Williams

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Y-H Jiang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

V Shashi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

R Crimian

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

K Schoch

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

A Harper

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

D McHale

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

D Goldstein

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

publication date

30 March 2015

1 reference

10 February 2018

http://europepmc.org/abstract/MED/25823418

published in

Clinical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

597-599

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25823418%20AND%20SRC:MED&resulttype=core&format=json

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

7 June 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12581

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12581

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FCGE.12581