Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.

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P2860

Q52609441-DCF29F90-FF38-430C-853F-B8ABCF0DB5E1

P2860

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.

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http://www.wikidata.org/entity/Q41919782

description

2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Novel Causative Variants in DY ...... dditional Phenotypic Features.

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Novel Causative Variants in DY ...... dditional Phenotypic Features.

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Novel Causative Variants in DY ...... dditional Phenotypic Features.

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P1476

Novel Causative Variants in DY ...... dditional Phenotypic Features.

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P2093

Clark R Murray

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Joseph Foster

http://www.w3.org/2001/XMLSchema#string

Maria I Walke

http://www.w3.org/2001/XMLSchema#string

Matthew B McClure

http://www.w3.org/2001/XMLSchema#string

Mustafa Tekin

http://www.w3.org/2001/XMLSchema#string

Parul Jayakar

http://www.w3.org/2001/XMLSchema#string

Samantha N Abel

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P2860

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Genome sequencing identifies major causes of severe intellectual disability.

P304

77-83

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scholarly article

P356

10.1055/S-0037-1598639

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P433

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Guney Bademci

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2017-02-14T00:00:00Z

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28496994

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disability

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Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.

about

P2860

P2860

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.

description

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type

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P1433

P1476

P2093

P2860

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P1476

P2093

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P932