(Q34306101)

1 August 2017

title

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder (English)

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1 August 2017

main subject

autism spectrum disorder

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9

Carrie Sougnez

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Kristian Cibulskis

10

object named as

Kristian Cibulskis

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Stacey Gabriel

11

object named as

Stacey Gabriel

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1 August 2017

Erik G Puffenberger

1

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1 August 2017

Robert N Jinks

2

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1 August 2017

Heng Wang

3

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1 August 2017

Baozhong Xin

4

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1 August 2017

Christopher Fiorentini

5

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1 August 2017

Eric A Sherman

6

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1 August 2017

Dominick Degrazio

7

1 reference

1 August 2017

Calvin Shaw

8

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1 August 2017

Richard I Kelley

12

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1 August 2017

D Holmes Morton

13

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1 August 2017

Kevin A Strauss

14

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1 August 2017

language of work or name

English

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publication date

1 December 2012

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1 August 2017

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1 August 2017

volume

33

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1 August 2017

issue

12

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1 August 2017

page(s)

1639-1646

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HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

1 August 2017

cites work

1 reference

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Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase

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21 January 2018

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21 January 2018

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HERC2 is an E3 ligase that targets BRCA1 for degradation.

21 January 2018

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Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22237

1 reference

1 August 2017

1 reference