De novo mutations ofKIAA2022in females cause intellectual disability and intractable epilepsy
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Title
De novo mutations ofKIAA2022in females cause intellectual disability and intractable epilepsy
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 12, Pages 850-858
Publisher
BMJ
Online
2016-06-30
DOI
10.1136/jmedgenet-2016-103909
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Note: Only part of the references are listed.- Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
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- Delineation of theKIAA2022mutation phenotype: Two patients with X-linked intellectual disability and distinctive features
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- KIAA2022nonsense mutation in a symptomatic female
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- Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection
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