Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. (Q33815229)

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13 March 2020

title

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders (English)

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13 March 2020

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4

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Karen Temple

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19

Usha Kini

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13 March 2020

Alistair T Pagnamenta

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object named as

Alistair T Pagnamenta

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13 March 2020

author name string

Yoshiko Murakami

2

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John M Taylor

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Malcolm F Howard

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Venessa Miller

6

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Diana S Johnson

7

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13 March 2020

Shereen Tadros

8

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Sahar Mansour

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Rachel Firth

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Elisabeth Rosser

12

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Rachel E Harrison

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Bronwen Kerr

14

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Niko Popitsch

15

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13 March 2020

DDD Study

16

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13 March 2020

Taroh Kinoshita

17

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Jenny C Taylor

18

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publication date

22 March 2017

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European Journal of Human Genetics

13 March 2020

published in

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13 March 2020

volume

25

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13 March 2020

issue

6

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13 March 2020

page(s)

669-679

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Creative Commons Attribution 4.0 International

13 March 2020

copyright license

start time

22 March 2017

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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21 January 2018

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21 January 2018

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Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

21 January 2018

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21 January 2018

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PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Mutations in PIGL in a patient with Mabry syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2017.32

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2017.32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28327575%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28327575%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

PubMed publication ID

28327575

1 reference