Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
about
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.A recurrent de novo missense mutation in UBTF causes developmental neuroregression.Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
description
2016 nî lūn-bûn
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2016年の論文
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name
Whole exome sequencing reveals ...... a neurodevelopmental disorder.
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Whole exome sequencing reveals ...... a neurodevelopmental disorder.
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type
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Whole exome sequencing reveals ...... a neurodevelopmental disorder.
@en
Whole exome sequencing reveals ...... a neurodevelopmental disorder.
@nl
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Whole exome sequencing reveals ...... a neurodevelopmental disorder.
@en
Whole exome sequencing reveals ...... a neurodevelopmental disorder.
@nl
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Whole exome sequencing reveals ...... a neurodevelopmental disorder.
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Aida Telegrafi
Bethany Friedman
Brad Angle
Brooke Smith
David B Everman
Eden Haverfield
Elliott Sherr
Francisca Millan
Honey Nagakura
Jane Juusola
P2860
P304
P356
10.1002/AJMG.A.37670
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P577
2016-05-02T00:00:00Z