Kent Shefchek
0000-0001-6439-2224
4 papers found
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The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study (Preprint)
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
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