Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity - Concepedia

Concepedia

Publication | Open Access

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

DOI Full Paper Access

90

Citations

51

References

2018

Year

Karen S. Raraigh, Sangwoo T. Han, Emily F. Davis-Marcisak, Taylor A. Evans, Matthew J. Pellicore, Allison F. McCague, Anya T. Joynt, Zhongzhou Lu, Melis Atalar, Neeraj Sharma,

The American Journal of Human Genetics

Allelic VariantGenotype-phenotype AssociationGenetic DisorderGeneticsStatistical GeneticsVariable ExpressivityMissense Variants AssociatedBiostatisticsPublic HealthMolecular DiagnosticsVariant Interpretation

References

	Year	Citations

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