Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures (Q28115931)

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Language	Label	Description	Also known as
English	Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures	scientific journal article

Statements

scholarly article

1 reference

4 January 2017

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures (English)

1 reference

4 January 2017

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

Thyroid hormone receptor interactor 4

1 reference

GOA release 2020-03-11

Activating signal cointegrator 1 complex subunit 1

1 reference

GOA release 2020-03-11

Cysteine and glycine rich protein 1

1 reference

GOA release 2020-03-11

Activating signal cointegrator 1 complex subunit 2

1 reference

GOA release 2020-03-11

Thyroid hormone receptor interactor 4

1 reference

GOA release 2020-03-11

muscular atrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Sigmar Stricker

18

0 references

Sabine Rudnik-Schöneborn

7

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Janbernd Kirschner

15

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9

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David Meierhofer

object named as

David Meierhofer

19

0 references

0 references

object named as

Hiromi Hirata

2

1 reference

ORCID Public Data File 2021

author name string

Ellen Knierim

1

1 reference

4 January 2017

Nicole I. Wolf

3

1 reference

4 January 2017

Susanne Morales-Gonzalez

4

1 reference

4 January 2017

Gudrun Schottmann

5

1 reference

4 January 2017

Yu Tanaka

6

1 reference

4 January 2017

Mickael Orgeur

8

1 reference

4 January 2017

Stefanie Vogt

10

1 reference

4 January 2017

Anne van Riesen

11

1 reference

4 January 2017

Esther Gill

12

1 reference

4 January 2017

Franziska Seifert

13

1 reference

4 January 2017

Angelika Zwirner

14

1 reference

4 January 2017

Hans Hilmar Goebel

16

1 reference

4 January 2017

Christoph Hübner

17

1 reference

4 January 2017

Werner Stenzel

20

1 reference

4 January 2017

Markus Schuelke

21

1 reference

4 January 2017

language of work or name

0 references

publication date

3 March 2016

1 reference

4 January 2017

American Journal of Human Genetics

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4 January 2017

98

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4 January 2017

473–489

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4 January 2017

3

1 reference

4 January 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4800037/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Activating signal cointegrator 1, a novel transcription coactivator of nuclear receptors, and its cytosolic localization under conditions of serum deprivation

1 reference

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Gene ontology: tool for the unification of biology

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20 March 2017

Novel transcription coactivator complex containing activating signal cointegrator 1

1 reference

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20 March 2017

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

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Identifiers

10.1016/J.AJHG.2016.01.006

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1 reference

4 January 2017

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