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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

2024-03-02

Abstract excerpt

<h4>Purpose</h4> Pathogenic variants in Kinesin Family Member 1A ( KIF1A ) are associated with KIF1A -associated neurological disorder (KAND). We report the clinical phenotypes and correlate genotypes of individuals with KAND. <h4>Methods</h4> Medical history and adaptive function were assessed longitudinally. In-person evaluations included neurological, motor, ophthalmologic and cognitive assessments. <h4>Results...

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Literature Corpus work
30b27492-5bbc-57ce-ab44-e0ed2660e23c
DOI
10.1101/2024.02.29.24303377
Open publication

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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorderDOI 10.1101/2024.02.29.24303377
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