HUGO BELLEN to Genetic Variation
This is a "connection" page, showing publications HUGO BELLEN has written about Genetic Variation.
Connection Strength
0.642
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017 Jun 01; 100(6):843-853.
Score: 0.346
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.105
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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 10 04; 103(4):568-578.
Score: 0.095
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.028
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Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Curr Protoc Bioinformatics. 2019 09; 67(1):e85.
Score: 0.025
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. J Vis Exp. 2019 08 15; (150).
Score: 0.025
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miR-9a minimizes the phenotypic impact of genomic diversity by buffering a transcription factor. Cell. 2013 Dec 19; 155(7):1556-67.
Score: 0.017