Original paper
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
Abstract
Importance
Knowing the range of symptoms seen in patients with a missense or loss-of-function variant inKCNB1and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.Objectives
To investigate the clinical spectrum associated withKCNB1variants and the genotype-phenotype correlations.Design, Setting, and Participants
This study...Paper Details
Title
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
Published Date
Oct 1, 2017
Journal
Volume
74
Issue
10
Pages
1228 - 1228
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Notes
History