Articles with "variant maps" as a keyword



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The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1

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Published in 2017 at "Journal of Dental Research"

DOI: 10.1177/0022034517726496

Abstract: Here we describe the genotype-phenotype correlations of diseases caused by variants in Fibroblast Growth Factor Receptor 1 (FGFR1) and report a novel, de novo variant in FGFR1 in an individual with multiple congenital anomalies. The… read more here.

Keywords: domain specific; maps explore; specific mutations; use variant ... See more keywords