Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 14 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations specific to the Rac- ...... l disability and microcephaly.
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Mutations specific to the Rac- ...... l disability and microcephaly.
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type
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Mutations specific to the Rac- ...... l disability and microcephaly.
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Mutations specific to the Rac- ...... l disability and microcephaly.
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Mutations specific to the Rac- ...... l disability and microcephaly.
@en
Mutations specific to the Rac- ...... l disability and microcephaly.
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Mutations specific to the Rac- ...... al disability and microcephaly
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Anne Debant
Catherine Mercer
Christine Fagotto-Kaufmann
David Goudie
Diana Baralle
Eleanor G Seaby
Michael J Parker
Sarah Ennis
Sarju G Mehta
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10.1136/JMEDGENET-2016-103942
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2016-07-14T00:00:00Z