(Q48298927)

10 February 2018

http://europepmc.org/abstract/MED/28393351

title

Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency. (English)

1 reference

10 February 2018

http://europepmc.org/abstract/MED/28393351

1 reference

11

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5 June 2020

author name string

W-B He

1

1 reference

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5 June 2020

S Banerjee

2

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5 June 2020

L-L Meng

3

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5 June 2020

J Du

4

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5 June 2020

F Gong

5

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5 June 2020

H Huang

6

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5 June 2020

X-X Zhang

7

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5 June 2020

Y-Y Wang

8

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5 June 2020

G-X Lu

9

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5 June 2020

G Lin

10

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5 June 2020

publication date

10 April 2017

1 reference

10 February 2018

http://europepmc.org/abstract/MED/28393351

published in

Clinical Genetics

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5 June 2020

volume

93

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5 June 2020

issue

2

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5 June 2020

page(s)

340-344

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Mutant Cohesin in Premature Ovarian Failure

5 June 2020

cites work

1 reference

Clinical practice. Primary ovarian insufficiency

21 January 2018

1 reference

Genetics of primary ovarian insufficiency.

21 January 2018

1 reference

STAG3 truncating variant as the cause of primary ovarian insufficiency

21 January 2018

1 reference

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

21 January 2018

1 reference

Cohesin, a chromatin engagement ring

21 January 2018

1 reference

STAG3 is a strong candidate gene for male infertility.

21 January 2018

1 reference

Cohesin SMC1beta protects telomeres in meiocytes

21 January 2018

1 reference

Meiosis-specific cohesin component, Stag3 is essential for maintaining centromere chromatid cohesion, and required for DNA repair and synapsis between homologous chromosomes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.13034

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28393351%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference