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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 | Preprint
Contributors: Khemika K. Sudnawa; Wenxing Li; Sean Calamia; Cara H. Kanner; Jennifer M. Bain; Aliaa H. Abdelhakim; Alexa Geltzeiler; Caroline M. Mebane; Frank A. Provenzano; Tristan T. Sands et al.
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Using the Integrated Genome Viewer to reveal amplicon‐derived polymorphism enriched at the phenylthiocarbamide locus in the teaching lab

Biochemistry and Molecular Biology Education
2021-05 | Journal article
Contributors: Eric D. Brenner; Paul E. Scheid; Justin DeGrazia; Alexa R. Geltzeiler; Manpreet S. Katari
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